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肿瘤（英文） 肿瘤（中文） 肿瘤分类 肿瘤编号 肿瘤分类编号 系统
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Solid Tumor 实体瘤 实体瘤 A1 B1 实体瘤
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Lung Adenocarcinoma 肺腺癌 非小细胞肺癌 A2 B2 呼吸系统
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Lung Cancer 肺癌 非小细胞肺癌 A3 B2
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Lung Squamous Cell Carcinoma 肺鳞癌 非小细胞肺癌 A4 B2
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Non-Small Cell Lung Cancer 非小细胞肺癌 非小细胞肺癌 A5 B2
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Thymic Carcinoma 胸腺癌 胸腺癌 A6 B3
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Parotid Gland Cancer 腮腺癌 腮腺癌 A7 B4 消化系统
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Esophageal Cancer 食管癌 食管癌 A8 B5
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Gastric Cancer 胃癌 胃癌 A9 B6
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Gastrointestinal Stromal Tumor 胃肠道间质瘤 胃肠道间质瘤 A10 B7
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Esophagogastric Cancer 胃食管交界癌 胃食管交界癌 A11 B8
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Peritoneal Serous Carcinoma 腹膜浆液性癌 腹膜癌 A12 B9
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Colorectal Cancer 结直肠癌 结直肠癌 A13 B10
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Familial Adenomatous Polyposis 家族性大肠息肉病 家族性大肠息肉病 A63 B10 罕见病及遗传性疾病
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Anaplastic Thyroid Cancer 未分化甲状腺癌 甲状腺癌 A14 B11 分泌腺
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Medullary Thyroid Cancer 甲状腺髓样癌 甲状腺癌 A15 B11
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Papillary Thyroid Carcinoma 乳头状甲状腺癌 甲状腺癌 A16 B11
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Thyroid Cancer 甲状腺癌 甲状腺癌 A17 B11
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Hepatocellular Carcinoma 肝癌 肝癌 A18 B12
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Bile Duct Cancer 胆管癌 胆管癌 A19 B13
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Intrahepatic Cholangiocarcinoma 肝内胆管癌 胆管癌 A96 B13
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Pancreatic Cancer 胰腺癌 胰腺癌 A20 B14
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Pancreatic Ductal Adenocarcinoma 胰腺导管腺癌 胰腺癌 A21 B14
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Urothelial Carcinoma 尿路上皮癌 尿路上皮癌 A22 B15 泌尿系统
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Papillary Renal Cell Carcinoma 乳头状肾癌 肾癌 A23 B16
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Renal Cell Carcinoma 肾癌 肾癌 A24 B16
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Bladder Cancer 膀胱癌 膀胱癌 A25 B17
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Breast Cancer 乳腺癌 乳腺癌 A26 B18 生殖系统
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Estrogen-Receptor Positive Breast Cancer ER阳性乳腺癌 乳腺癌 A27 B18
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Her2-Receptor Negative Breast Cancer HER2阴性乳腺癌 乳腺癌 A28 B18
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Triple-Receptor Negative Breast Cancer 三阴性乳腺癌 乳腺癌 A29 B18
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Low-Grade Serous Ovarian Cancer 低级别浆液性卵巢癌 卵巢癌 A30 B19
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Ovarian Cancer 卵巢癌 卵巢癌 A31 B19
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Ovarian Serous Carcinoma 浆液性卵巢癌 卵巢癌 A32 B19
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Fallopian Tube Cancer 输卵管癌 卵巢癌 A90 B19 生殖系统
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Endometrial Cancer 子宫内膜癌 子宫癌 A33 B20
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Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma 子宫浆液性癌 子宫癌 A34 B20
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Uterine Sarcoma 子宫癌 子宫癌 A91 B20
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Seminoma 精原细胞癌 睾丸癌 A35 B21
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Prostate Cancer 前列腺癌 前列腺癌 A36 B22
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Neurofibroma 神经纤维瘤 神经纤维瘤 A38 B24
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Pilocytic Astrocytoma 纤维性星型细胞瘤 星型细胞瘤 A39 B25
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Pleomorphic Xanthoastrocytoma 多型性星型细胞瘤 星型细胞瘤 A40 B25
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Subependymal giant cell astrocytoma 室管膜下巨细胞星形细胞瘤 星型细胞瘤 A101 B25
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Chordoma 脊索瘤 脊索瘤 A41 B26
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Pituitary Tumor 垂体瘤 垂体瘤 A42 B27
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Acoustic Neuroma 听神经瘤 头颈部癌 A43 B28
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Head And Neck Cancer 头颈部癌 头颈部癌 A44 B28
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Head And Neck Squamous Cell Carcinoma 头颈部鳞状细胞癌 头颈部癌 A45 B28
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Salivary Gland Cancer 唾液腺肿瘤 头颈部癌 A88 B28
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CNS Cancer 中枢神经系统肿瘤 中枢神经系统肿瘤 A46 B29
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Ganglioglioma 神经胶质瘤 中枢神经系统肿瘤 A47 B29
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Ganglioneuroblastoma 成神经节细胞瘤 中枢神经系统肿瘤 A48 B29
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Medulloblastoma 髓母细胞瘤 中枢神经系统肿瘤 A49 B29
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Melanoma 黑色素瘤 黑色素瘤 A50 B30 皮肤
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Uveal Melanoma 葡萄膜黑色素瘤 黑色素瘤 A51 B30
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Vulvar Melanoma 外阴黑色素瘤 黑色素瘤 A52 B30
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Cutaneous Melanoma 皮肤黑色素瘤 黑色素瘤 A92 B30 皮肤
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Basal Cell Carcinoma 基底细胞癌 皮肤癌 A53 B31
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Angiosarcoma 血管肉瘤 肉瘤 A54 B32 肉瘤
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Epithelioid Sarcoma 上皮样肉瘤 肉瘤 A55 B32
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Liposarcoma 脂肪肉瘤 肉瘤 A56 B32
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Sarcoma 肉瘤 肉瘤 A57 B32
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Uterus Leiomyosarcoma 子宫平滑肌肉瘤 肉瘤 A58 B32
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Chondrosarcoma 软骨肉瘤 肉瘤 A85 B32
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Dermatofibrosarcoma?Protuberans 隆突性皮纤维肉瘤 肉瘤 A86 B32
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Soft Tissue Sarcoma 软组织肉瘤 肉瘤 A93 B32
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Perivascular Epithelioid Cell Tumor 血管周上皮样细胞瘤 血管周上皮样细胞瘤 A59 B33 细胞命名肿瘤
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Inflammatory Myofibroblastic Tumor 炎症性肌纤维母细胞瘤 肌纤维母细胞瘤 A60 B34
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Tenosynovial Giant Cell Tumor 腱鞘巨细胞瘤 腱鞘巨细胞瘤 A61 B35
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Neuroblastoma 神经母细胞瘤 胶质瘤 A37 B36
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Glioma 胶质瘤 胶质瘤 A62 B36
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Diffuse Glioma 弥漫性胶质瘤 胶质瘤 A97 B36
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Encapsulated Glioma 囊性胶质瘤 胶质瘤 A98 B36
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Peutz-Jeghers Syndrome 黑斑息肉综合征 黑斑息肉综合征 A64 B38
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Erdheim-Chester Disease 切斯特病 切斯特病 A65 B39
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Systemic Mastocytosis 系统性肥大细胞增多症 系统性肥大细胞增多症 A66 B40
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Histiocytosis 组织细胞增多症 组织细胞增多症 A67 B41
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Acute Lymphocytic Leukemia 急性淋巴细胞白血病 白血病 A68 B42 血液类肿瘤
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Acute Myeloid Leukemia 急性髓细胞白血病 白血病 A69 B42
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"Chronic Eosinophilic Leukemia, NOS" 慢性嗜酸细胞白血病 白血病 A70 B42
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Chronic Lymphocytic Leukemia 慢性淋巴细胞白血病 白血病 A71 B42
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Chronic Myelogenous Leukemia 慢性髓细胞白血病 白血病 A72 B42
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Hairy Cell Leukemia 毛细胞白血病 白血病 A73 B42
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Anaplastic Large Cell Lymphoma 渐变性大细胞淋巴瘤 淋巴瘤 A74 B43
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Central Nervous System Lymphoma 中枢神经系统淋巴瘤 淋巴瘤 A75 B43
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Diffuse Large B-Cell Lymphoma 弥散性大B细胞淋巴瘤 淋巴瘤 A76 B43
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Follicular Lymphoma 滤泡性淋巴瘤 淋巴瘤 A77 B43
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Lymphatic System Cancer 淋巴系统肿瘤 淋巴瘤 A78 B43
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Non-Hodgkin Lymphoma 非霍奇金淋巴瘤 淋巴瘤 A79 B43
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Polycythemia Vera 红细胞增多症 红细胞增多症 A80 B44
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Myelodysplastic/Myeloproliferative Neoplasms 骨髓增生异常/骨髓增殖性疾病 骨髓增生异常/骨髓增殖性疾病 A81 B45
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Myelofibrosis 骨髓纤维化 骨髓纤维化 A82 B46
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Waldenstr?m'S Macroglobulinemia 巨球蛋白血症 巨球蛋白血症 A83 B47
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Myeloid Neoplasm 髓系肿瘤 髓系肿瘤 A84 B48
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Nasopharyngeal carcinoma 鼻咽癌 鼻咽癌 A94 B49 呼吸系统
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Gallbladder Cancer 胆囊癌 胆囊癌 A87 B49
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Pancreatic neuroendocrine tumors 胰腺神经内分泌肿瘤 神经内分泌肿瘤 A89 B50
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Neuroendocrine 神经内分泌肿瘤 神经内分泌肿瘤 A100 B50
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Gastrointestinal Cancers 胃肠癌 胃肠癌 A95 B51
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Gene,Alteration,Oncogenic,Mutation_Effect,Citations
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CDK6,Amplification,Oncogenic,Gain-of-function,4
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MCL1,Amplification,Oncogenic,Gain-of-function,4
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PDGFRA,Amplification,Oncogenic,Gain-of-function,4
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SRC,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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FGFR4,Amplification,Oncogenic,Gain-of-function,4
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ECSIT,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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EGFR,Amplification,Oncogenic,Gain-of-function,4
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HRAS,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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ERCC2,Amplification,Inconclusive,Inconclusive,4
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ATP1A1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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UBR5,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PDGFRB,Amplification,Inconclusive,Inconclusive,4
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MYC,Amplification,Oncogenic,Gain-of-function,4
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CDK4,Amplification,Oncogenic,Gain-of-function,4
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RICTOR,Amplification,Oncogenic,Gain-of-function,4
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ALK,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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FGFR2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PHF19,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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RAC1,Amplification,Likely Oncogenic,Gain-of-function,4
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CARD11,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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AXL,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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FGFR1,Amplification,Oncogenic,Gain-of-function,4
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PIK3R2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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KAT7,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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GLI1,Amplification,Oncogenic,Gain-of-function,4
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NRAS,Amplification,Inconclusive,Inconclusive,4
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CXCR4,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PSMB2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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BRAF,Amplification,Oncogenic,Gain-of-function,4
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FLT1,Amplification,Inconclusive,Inconclusive,4
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DNMT3B,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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KDM5A,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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AR,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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MDM2,Amplification,Oncogenic,Gain-of-function,4
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YES1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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FOXA1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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MERTK,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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MAP2K1,Amplification,Inconclusive,Inconclusive,4
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MYCL,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PPM1D,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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NKX2-1,Amplification,Oncogenic,Gain-of-function,4
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MYCN,Amplification,Oncogenic,Gain-of-function,4
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ERBB3,Amplification,Oncogenic,Gain-of-function,4
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ETV1,Amplification,Oncogenic,Gain-of-function,4
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SETD3,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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ERBB2,Amplification,Oncogenic,Gain-of-function,4
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ROS1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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AURKA,Amplification,Oncogenic,Gain-of-function,4
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NTRK1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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ACKR3,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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MDM4,Amplification,Oncogenic,Gain-of-function,4
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GATA3,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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BCL6,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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JUN,Amplification,Oncogenic,Gain-of-function,4
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RNASEH2A,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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REV3L,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PAK1,Amplification,Oncogenic,Gain-of-function,4
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CCND3,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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FGF4,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PIK3CB,Amplification,Likely Oncogenic,Gain-of-function,4
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GAB2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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KIT,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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RHOA,Amplification,Oncogenic,Gain-of-function,4
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RAF1,Amplification,Oncogenic,Gain-of-function,4
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CCND1,Amplification,Oncogenic,Gain-of-function,4
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ESR1,Amplification,Inconclusive,Inconclusive,4
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BAALC,Amplification,Likely Oncogenic,Likely Gain-of-function,3
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ID1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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KDR,Amplification,Oncogenic,Gain-of-function,4
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PIK3CA,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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MEF2B,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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JAK2,Amplification,Oncogenic,Gain-of-function,4
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FGF3,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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MAPK1,Amplification,Likely Oncogenic,Gain-of-function,4
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CD274,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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MET,Amplification,Oncogenic,Gain-of-function,4
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FUS,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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FZR1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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YAP1,Amplification,Oncogenic,Gain-of-function,4
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CCNE1,Amplification,Oncogenic,Gain-of-function,4
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CRLF2,Amplification,Oncogenic,Gain-of-function,4
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NSD3,Amplification,Inconclusive,Inconclusive,4
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VEGFA,Amplification,Likely Oncogenic,Gain-of-function,4
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SMO,Amplification,Inconclusive,Inconclusive,4
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KRAS,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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ADHFE1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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IKBKE,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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RHEB,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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ALOX12B,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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BCL2L1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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BRD4,Amplification,Likely Oncogenic,Gain-of-function,4
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FGF19,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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TOP1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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KMT2A,Amplification,Inconclusive,Inconclusive,4
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RUNX1,Amplification,Oncogenic,Gain-of-function,4
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AGO2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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DDR2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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AKT1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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HMGA1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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TRIM27,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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CYP19A1,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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IRS2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PAX5,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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LGR5,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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CDK8,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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AKT2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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HMGA2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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CDK12,Amplification,Inconclusive,Inconclusive,4
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MITF,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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PDCD1LG2,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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EZH2,Amplification,Oncogenic,Gain-of-function,4
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AKT3,Amplification,Oncogenic,Gain-of-function,4
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TERT,Amplification,Likely Oncogenic,Likely Gain-of-function,4
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KDM5C,Overexpression,Likely Oncogenic,Likely Gain-of-function,4
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AURKB,Overexpression,Likely Oncogenic,Likely Gain-of-function,4
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RHOA,Overexpression,Oncogenic,Gain-of-function,4
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CCNE1,Overexpression,Oncogenic,Gain-of-function,4
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EZH2,Overexpression,Oncogenic,Gain-of-function,4
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MSH2,Deletion,Likely Oncogenic,Likely Loss-of-function,4
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BBC3,Deletion,Likely Oncogenic,Likely Loss-of-function,4
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EP300,Deletion,Likely Oncogenic,Likely Loss-of-function,4
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CHTF8,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ATRIP,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
BAP1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TGFBR1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
MSH3,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
DAXX,Deletion,Oncogenic,Loss-of-function,4
|
||||
DUSP4,Deletion,Inconclusive,Inconclusive,4
|
||||
FANCA,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ERRFI1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
BRIP1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
PTPRD,Deletion,Oncogenic,Loss-of-function,4
|
||||
TGFBR2,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CTCF,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
NF1,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
FBXW7,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
RAD51B,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ATM,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
MLH1,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
BTG1,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
RELN,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
NOTCH1,Deletion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PIK3R1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
XRCC2,Deletion,Likely Neutral,Likely Loss-of-function,4
|
||||
ERCC4,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
NF2,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CIITA,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
SOX17,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
MSH6,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
HNF1A,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
BRCA2,Deletion,Oncogenic,Loss-of-function,4
|
||||
BCOR,Deletion,Oncogenic,Loss-of-function,4
|
||||
ATRX,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
DNMT3A,Deletion,Oncogenic,Loss-of-function,4
|
||||
CDKN2B,Deletion,Oncogenic,Loss-of-function,4
|
||||
PMS2,Deletion,Oncogenic,Loss-of-function,4
|
||||
PARP1,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
CDKN2C,Deletion,Oncogenic,Loss-of-function,4
|
||||
RAD17,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CD58,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
EED,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TP53BP1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
BRCA1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
MED12,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
SMARCA4,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CDKN2A,Deletion,Oncogenic,Loss-of-function,4
|
||||
DNMT3B,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
NPM1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
SOX9,Deletion,Oncogenic,Loss-of-function,4
|
||||
APC,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
BCL2L11,Deletion,Oncogenic,Likely Loss-of-function,4
|
||||
CIC,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
SHQ1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
RBM10,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
AXIN1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
FOXA1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
PBRM1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
EPHA3,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
VHL,Deletion,Oncogenic,Likely Loss-of-function,4
|
||||
BCL10,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
KEAP1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CDC73,Deletion,Oncogenic,Loss-of-function,4
|
||||
COP1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CASP8,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
PTEN,Deletion,Oncogenic,Loss-of-function,4
|
||||
SETD2,Deletion,Oncogenic,Loss-of-function,4
|
||||
MGA,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
STK11,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ALDH2,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TET2,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
GATA3,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TP53,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
REV3L,Deletion,Inconclusive,Inconclusive,4
|
||||
SDHB,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
INPP4B,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
LATS1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TET1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
RNASEH2B,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
PTPN11,Deletion,Oncogenic,Loss-of-function,4
|
||||
SMARCB1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CREBBP,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
RAD21,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
LATS2,Deletion,Oncogenic,Loss-of-function,4
|
||||
ASXL2,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CDKN1A,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
KDM6A,Deletion,Oncogenic,Loss-of-function,4
|
||||
SDHD,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ARID1A,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
FZR1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ASXL1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CDKN1B,Deletion,Oncogenic,Loss-of-function,4
|
||||
TNFAIP3,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ARID1B,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
IKZF1,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
KMT2C,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
MAX,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CBL,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
FH,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
RB1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
PPP2R2A,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
MTAP,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
SMAD4,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
CDH1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
BARD1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TSC2,Deletion,Oncogenic,Likely Loss-of-function,4
|
||||
KMT2D,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
HTATIP2,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
RASA1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
MEN1,Deletion,Oncogenic,Loss-of-function,4
|
||||
PAX5,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
BCL11B,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
B2M,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
SMAD3,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
INTS6,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CDK12,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TSC1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
BIRC3,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
RAD50,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
FAT1,Deletion,Oncogenic,Loss-of-function,4
|
||||
SMAD2,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
ANKRD11,Deletion,Likely Oncogenic,Loss-of-function,4
|
||||
DICER1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
SETD3,Overexpression,Likely Oncogenic,Likely Gain-of-function,1
|
||||
CRLF2,Overexpression,Oncogenic,Gain-of-function,10
|
||||
FLT3,Amplification,Likely Oncogenic,Gain-of-function,2
|
||||
PRDM1,Deletion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
TLE1,Deletion,Likely Oncogenic,Likely Loss-of-function,2
|
||||
TLE4,Deletion,Likely Oncogenic,Likely Loss-of-function,2
|
||||
|
|
|
@ -0,0 +1,339 @@
|
|||
Gene,Alteration,Oncogenic,Mutation_Effect,Citations
|
||||
EP300,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
EP300,MLL-EP300 Fusion,Inconclusive,Inconclusive,4
|
||||
EP300,MOZ-EP300 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
TCL1B,TRA-TCL1B Fusion,Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRA,STRN-PDGFRA Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRA,FIP1L1-PDGFRA Fusion,Oncogenic,Gain-of-function,4
|
||||
PDGFRA,KDR-PDGFRA Fusion,Oncogenic,Gain-of-function,4
|
||||
PDGFRA,BCR-PDGFRA Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRA,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRA,ETV6-PDGFRA Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRA,CDK5RAP2-PDGFRA Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRA,KIF5B-PDGFRA Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MAF,IGH-MAF Fusion,Oncogenic,Likely Gain-of-function,4
|
||||
NRG1,SLC3A2-NRG1 fusion,Oncogenic,Gain-of-function,4
|
||||
NRG1,APP-NRG1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NRG1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NRG1,ATP1B1-NRG1 fusion,Oncogenic,Gain-of-function,4
|
||||
NRG1,CD74-NRG1 fusion,Oncogenic,Gain-of-function,4
|
||||
DDIT3,FUS-DDIT3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
DDIT3,EWSR1-DDIT3 Fusion,Oncogenic,Gain-of-function,4
|
||||
TLX3,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
IL3,IGH-IL3 Fusion,Oncogenic,Gain-of-function,4
|
||||
EGFR,HMGA2-EGFR Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
EGFR,EGFR-RAD51 Fusion,Oncogenic,Gain-of-function,4
|
||||
EGFR,EGFR-SEPT14 Fusion,Oncogenic,Gain-of-function,4
|
||||
TLX1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TCL1A,TRA-TCL1A Fusion,Oncogenic,Likely Gain-of-function,4
|
||||
CBFB,CBFB-MYH11 Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
PDGFRB,TP53BP1-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,KANK1-PDGFRB Fusion,Oncogenic,Gain-of-function,4
|
||||
PDGFRB,PRKG2-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,GIT2-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,PDE4DIP-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,BIN2-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,HIP1-PDGFRB Fusion,Oncogenic,Gain-of-function,4
|
||||
PDGFRB,GPIAP1-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,WDR48-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,SPTBN1-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,RABEP1-PDGFRB Fusion,Oncogenic,Gain-of-function,4
|
||||
PDGFRB,AGGF1-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,KIAA1509-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,CEP85L-PDGFRB Fusion,Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,ATF7IP-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,EBF1-PDGFRB Fusion,Oncogenic,Gain-of-function,4
|
||||
PDGFRB,GOLGA4-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFRB,ETV6-PDGFRB Fusion,Oncogenic,Gain-of-function,4
|
||||
PDGFRB,NIN-PDGFRB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MLLT3,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MYC,PVT1-MYC Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MYC,IGH-MYC Fusion,Oncogenic,Gain-of-function,4
|
||||
MYC,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MYC,IGK-MYC Fusion,Oncogenic,Gain-of-function,4
|
||||
MYC,IGL-MYC Fusion,Oncogenic,Gain-of-function,4
|
||||
FGFR3,IGH-FGFR3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR3,FGFR3-BAIAP2L1 Fusion,Oncogenic,Gain-of-function,4
|
||||
FGFR3,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR3,FGFR3-TACC3 Fusion,Oncogenic,Gain-of-function,4
|
||||
RAD51B,HMGA2-RAD51B Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ALK,ALK-GCC2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ALK,RANBP2-ALK Fusion,Oncogenic,Gain-of-function,4
|
||||
ALK,NPM1-ALK Fusion,Oncogenic,Gain-of-function,4
|
||||
ALK,ALK-ITGAV Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ALK,ALK-DYSF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ALK,CAD-ALK Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ALK,EML4-ALK Fusion,Oncogenic,Gain-of-function,4
|
||||
ALK,STRN-ALK Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ALK,KIF5B-ALK Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
ALK,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-ZMYM4 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-OPTN Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,KLK2-FGFR2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-MGEA5 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-TACC3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-PPHLN1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-KIAA1598 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-BICC1 Fusion,Oncogenic,Gain-of-function,4
|
||||
FGFR2,FGFR2-ATE1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-TACC2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-AHCYL1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-CIT Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-CCDC6 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
FGFR2,FGFR2-KIAA1967 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR2,FGFR2-FAM76A Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NOTCH1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NOTCH1,MIR143-NOTCH1 Fusion,Inconclusive,Inconclusive,4
|
||||
NOTCH1,SEC16A-NOTCH1 Fusion,Oncogenic,Gain-of-function,4
|
||||
FEV,EWSR1-FEV Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CIITA,Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CIITA,CIITA-BX648577 Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CIITA,NUBP1-CIITA Fusion,Likely Oncogenic,Loss-of-function,4
|
||||
FGFR1,ERLIN2-FGFR1 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
FGFR1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR1,ZMYM2-FGFR1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR1,BAG4-FGFR1 Fusion,Likely Neutral,Likely Loss-of-function,4
|
||||
FGFR1,CEP110-FGFR1 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
FGFR1,CNTRL-FGFR1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FGFR1,FGFR1OP-FGFR1 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
FGFR1,ZNF198-FGFR1 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
FGFR1,BCR-FGFR1 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
FGFR1,CUX1-FGFR1 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
EPOR,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ABL2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
KAT6A,KAT6A-TIF2 Fusion,Oncogenic,Gain-of-function,4
|
||||
MECOM,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MECOM,GATA2-MECOM Fusion,Oncogenic,Gain-of-function,4
|
||||
TRG,Fusion,Likely Oncogenic,Likely Gain-of-function,2
|
||||
ETV5,TMPRSS2-ETV5 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
SS18,SS18-SSX1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
SS18,SS18-SSX2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
SQSTM1,SQSTM1-NUP214 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ETV4,TMPRSS2-ETV4 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ETV4,EWSR1-ETV4 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
FLT3,ETV6-FLT3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
VAV1,VAV1-S100A7 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
VAV1,VAV1-MYO1F Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
VAV1,VAV1-THAP4 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ABL1,NUP214-ABL1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ABL1,BCR-ABL1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ABL1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,ARMC10-BRAF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,TRIM24-BRAF Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
BRAF,FAM131B-BRAF Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
BRAF,SND1-BRAF Fusion,Oncogenic,Gain-of-function,4
|
||||
BRAF,ZKSCAN1-BRAF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,GTF2I-BRAF Fusion,Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,AKAP9-BRAF Fusion,Oncogenic,Gain-of-function,4
|
||||
BRAF,PCBP2-BRAF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,MKRN1-BRAF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,AGK-BRAF Fusion,Oncogenic,Gain-of-function,4
|
||||
BRAF,KIAA1549-BRAF Fusion,Oncogenic,Gain-of-function,4
|
||||
BRAF,CUL1-BRAF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,PAPSS1-BRAF Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
BRAF,PPFIBP2-BRAF Fusion,Oncogenic,Gain-of-function,4
|
||||
BRAF,AGAP3-BRAF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRAF,ZNF767-BRAF Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TFE3,SFPQ-TFE3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TFE3,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TFE3,ASPSCR1-TFE3 Fusion,Oncogenic,Gain-of-function,4
|
||||
TFE3,PRCC-TFE3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TFE3,YAP1-TFE3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MYBL1,MYBL1¨CNFIB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BCORL1,BCORL1-ELF4 Fusion,Likely Oncogenic,Likely Loss-of-function,3
|
||||
TRD,Fusion,Likely Oncogenic,Likely Gain-of-function,2
|
||||
CIC,CIC-DUX4 Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
CIC,Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
ERBB4,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ERBB4,EZR-ERBB4 Fusion,Oncogenic,Gain-of-function,4
|
||||
WT1,EWSR1-WT1 Fusion,Oncogenic,Gain-of-function,4
|
||||
NTRK3,BTBD1-NTRK3 Fusion,Oncogenic,Gain-of-function,4
|
||||
NTRK3,EML4-NTRK3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK3,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK3,ETV6-NTRK3 Fusion,Oncogenic,Gain-of-function,4
|
||||
NTRK3,KANK1-NTRK3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK3,UBE2R2-NTRK3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK3,HNRNPA2B1- NTRK3 Fusion,Inconclusive,Inconclusive,4
|
||||
NR4A3,EWSR1-NR4A3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BCL9,MEF2D-BCL9 Fusion,Oncogenic,Likely Gain-of-function,4
|
||||
BCL9,BCL9-IGH Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BCL9,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TRA,Fusion,Likely Oncogenic,Likely Gain-of-function,2
|
||||
RBM15,RBM15-MRTFA Fusion,Oncogenic,Gain-of-function,4
|
||||
MYCL,RLF-MYCL Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BCL10,IGH-BCL10 Fusion,Oncogenic,Gain-of-function,4
|
||||
MAFB,IGH-MAFB Fusion,Oncogenic,Gain-of-function,4
|
||||
NTRK2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK2,ETV6-NTRK2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NKX2-1,TRA-NKX2-1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NKX2-1,TRB-NKX2-1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NKX2-1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NKX2-1,IGH-NKX2-1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TP63,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TRB,Fusion,Likely Oncogenic,Likely Gain-of-function,2
|
||||
ETV1,TMPRSS2-ETV1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ETV1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ETV1,EWSR1-ETV1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ROS1,FIG-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,TPM3-ROS1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ROS1,CCDC6-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,KDELR2-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,CEP85L-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,YWHAE-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,GOPC-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,CD74-ROS1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ROS1,EZR-ROS1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ROS1,LIMA1-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,SDC4-ROS1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ROS1,MSN-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,LRIG3-ROS1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ROS1,TFG-ROS1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ROS1,SLC34A2-ROS1 Fusion,Oncogenic,Gain-of-function,4
|
||||
NTRK1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK1,CD74-NTRK1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK1,TFG-NTRK1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK1,EPS15-NTRK1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK1,MPRIP-NTRK1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK1,TPR-NTRK1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NTRK1,LMNA-NTRK1 Fusion,Oncogenic,Gain-of-function,4
|
||||
NTRK1,NFASC-NTRK1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RARA,BCOR-RARA Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RARA,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RARA,PML-RARA Fusion,Oncogenic,Likely Gain-of-function,4
|
||||
RARA,GTF2I-RARA Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BCL6,IGH-BCL6 Fusion,Oncogenic,Gain-of-function,4
|
||||
BCL6,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
NUP98,NUP98-NSD1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CCND3,IGH-CCND3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TAL1,SIL-TAL1 Fusion,Oncogenic,Gain-of-function,4
|
||||
TAL1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PIK3CB,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PIK3CB,ACPP-PIK3CB Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RAF1,ATG7-RAF1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RAF1,GOLGA4-RAF1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RAF1,SRGAP3-RAF1 Fusion,Oncogenic,Gain-of-function,4
|
||||
RAF1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RAF1,ESRP1-RAF1 Fusion,Oncogenic,Gain-of-function,4
|
||||
RAF1,QKI-RAF1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PDGFB,COL1A1-PDGFB Fusion,Oncogenic,Gain-of-function,4
|
||||
TET1,MLL-TET1 Fusion,Oncogenic,Gain-of-function,4
|
||||
NUTM1,BRD4-NUTM1 Fusion,Oncogenic,Gain-of-function,4
|
||||
CCND1,IGH-CCND1 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
INSR,SLC12A2-INSR Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ESR1,ESR1-SOX9 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ESR1,ESR1-YAP1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ESR1,ESR1-GYG1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ESR1,ESR1-DAB2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ESR1,ESR1-CCDC170 Fusion,Oncogenic,Gain-of-function,4
|
||||
ESR1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CREBBP,KAT6A-CREBBP Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
LMO2,Fusion,Oncogenic,Gain-of-function,4
|
||||
MALT1,IGH-MALT1 Fusion,Inconclusive,Inconclusive,4
|
||||
MALT1,BIRC3-MALT1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ERG,EWSR1-ERG Fusion,Oncogenic,Gain-of-function,4
|
||||
ERG,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
ERG,FUS-ERG Fusion,Oncogenic,Gain-of-function,4
|
||||
ERG,TMPRSS2-ERG Fusion,Oncogenic,Gain-of-function,4
|
||||
GATA1,MYB-GATA1 Fusion,Oncogenic,Gain-of-function,4
|
||||
ATXN7,RAD51C-ATXN7 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,RUFY1-RET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,EML4-RET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,MYH10-RET fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,KIF5B-RET Fusion,Oncogenic,Gain-of-function,4
|
||||
RET,TRIM27-RET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,RET-SEPTIN9 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,SPECC1L-RET fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
RET,NCOA4-RET Fusion,Oncogenic,Gain-of-function,4
|
||||
RET,CCDC6-RET Fusion,Oncogenic,Gain-of-function,4
|
||||
WIF1,HMGA2-WIF1 Fusion,Inconclusive,Inconclusive,4
|
||||
JAK2,PCM1-JAK2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
JAK2,BCR-JAK2 Fusion,Oncogenic,Gain-of-function,4
|
||||
JAK2,TEL-JAK2 Fusion,Oncogenic,Gain-of-function,4
|
||||
JAK2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
JAK2,ATF7IP-JAK2 Fusion,Oncogenic,Gain-of-function,4
|
||||
JAK2,PAX5-JAK2 Fusion,Oncogenic,Gain-of-function,4
|
||||
MET,PTPRZ1-MET Fusion,Oncogenic,Gain-of-function,4
|
||||
MET,HLA-DRB1-MET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MET,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MET,CCDC6-MET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MET,CD74-MET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MET,CLIP2-MET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MET,EPHB4-MET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MET,TFG-MET Fusion,Oncogenic,Gain-of-function,4
|
||||
MET,KIF5B-MET Fusion,Oncogenic,Gain-of-function,4
|
||||
MET,MET-DST Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MET,STARD3NL-MET Fusion,Oncogenic,Gain-of-function,4
|
||||
MET,CD47-MET Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FUS,FUS-CREB3L2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FUS,FUS-CHOP Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FUS,FUS-ERG Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
DUSP22,Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
YAP1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
YAP1,YAP1-MAMLD1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
YAP1,YAP1-FAM118B Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
YAP1,YAP1-SS18 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
YAP1,YAP1-TFE3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CRLF2,P2RY8-CRLF2 Fusion,Oncogenic,Gain-of-function,4
|
||||
CRLF2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CRLF2,IGH-CRLF2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
LTK,CLIP1-LTK fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BCL3,IGH-BCL3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CREB1,EWSR1-CREB1 Fusion,Inconclusive,Inconclusive,4
|
||||
ATF1,EWSR1-ATF1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BCL2,IGH-BCL2 Fusion,Oncogenic,Gain-of-function,4
|
||||
BCL2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FOXO1,PAX7-FOXO1 Fusion,Inconclusive,Inconclusive,4
|
||||
TYK2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PPARG,PAX8-PPARG Fusion,Oncogenic,Gain-of-function,4
|
||||
MEF2D,MEF2D-SS18 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MEF2D,MEF2D-HNRNPUL1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MEF2D,MEF2D-DAZAP1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MEF2D,MEF2D-CSF1R Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MEF2D,MEF2D-FOXJ2 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
PRKACA,DNAJB1-PRKACA Fusion,Oncogenic,Gain-of-function,4
|
||||
IRF4,DUSP22-IRF4 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
IRF4,IGH-IRF4 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
IRF4,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
TCF3,TCF3-PBX1 Fusion,Oncogenic,Gain-of-function,4
|
||||
TCF3,TCF3-HLF Fusion,Oncogenic,Gain-of-function,4
|
||||
SET,SET-NUP214 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
BRD4,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FLI1,EWSR1-FLI1 Fusion,Oncogenic,Gain-of-function,4
|
||||
KMT2A,KMT2A-MLLT1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
KMT2A,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
KMT2A,KMT2A-MLLT3 Fusion,Oncogenic,Gain-of-function,4
|
||||
RUNX1,Fusion,Likely Oncogenic,Likely Loss-of-function,4
|
||||
RUNX1,ETV6-RUNX1 Fusion,Oncogenic,Likely Switch-of-function,4
|
||||
RUNX1,RUNX1-RUNX1T1 Fusion,Likely Oncogenic,Loss-of-function,4
|
||||
RUNX1,RUNX1-EVI1 Fusion,Likely Oncogenic,Loss-of-function,4
|
||||
CCNB3,BCOR-CCNB3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
AKT1,LAMTOR1-AKT1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
HMGA1,TBL1XR1-HMGA1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
EWSR1,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
FOXP1,IGH-FOXP1 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
AKT2,BCAM-AKT2 Fusion,Likely Oncogenic,Gain-of-function,4
|
||||
AKT2,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
HMGA2,HMGA2-LPP Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CSF1R,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
CSF1R,RBM6-CSF1R Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
DEK,DEK-NUP214 Fusion,Oncogenic,Gain-of-function,4
|
||||
AKT3,MAGI3-AKT3 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
AKT3,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MLLT10,KMT2A-MLLT10 Fusion,Oncogenic,Gain-of-function,4
|
||||
MLLT10,Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
MLLT10,PICALM-MLLT10 Fusion,Oncogenic,Gain-of-function,4
|
||||
EP300,EP300-MOZ Fusion,Likely Oncogenic,Gain-of-function,3
|
||||
EP300,EP300-MLL Fusion,Likely Oncogenic,Gain-of-function,5
|
||||
FGFR1,FGFR1-TACC1 Fusion,Oncogenic,Gain-of-function,2
|
||||
FGFR1,FGFR1OP1-FGFR1 Fusion,Likely Oncogenic,Gain-of-function,5
|
||||
ALK,NPM-ALK Fusion,Oncogenic,Gain-of-function,3
|
||||
NOTCH1,SEC16A1-NOTCH1 Fusion,Oncogenic,Gain-of-function,1
|
||||
NUP98,NSD1-NUP98 Fusion,Likely Oncogenic,Likely Gain-of-function,4
|
||||
GTF2I,Fusion,Likely Oncogenic,Likely Gain-of-function,2
|
||||
NRG1,SDC4-NRG1 Fusion,Likely Oncogenic,Likely Gain-of-function,
|
||||
YY1,EWSR1-YY1 Fusion,Inconclusive,Inconclusive,1
|
||||
|
|
|
@ -0,0 +1,105 @@
|
|||
基因 基因功能翻译
|
||||
AKT1 AKT1也称为蛋白激酶Bα或PKBα，是AKT激酶家族(包含AKT1/2/3或PKBα/β/y)的一员。该激酶由AKT1原癌基因编码，在全身广泛表达(PMID: 16095999; PMID: 20027184)。AKT1包含以下重要结构域：N-末端pleckstrin同源(PH)结构域、中心丝氨酸/苏氨酸催化结构域和C末端调节结构域(PMID: 16288296)。PH结构域募集磷脂PI(3,4,5)P3来引发AKT1活化，导致AKT1的构象变化，从而暴露两个关键氨基酸残基T308和S473用于磷酸化。T308单位点磷酸化导致部分AKT底物的磷酸化，然而，AKT1仅在两种磷酸化事件之后才能完全激活。激活的AKT1可以磷酸化超过50种底物，包括MDM2、GSK3、P27、P21、CASP9、BAD、FKHR、IKK和mTOR基因(PMID: 22025159)。蛋白磷酸酶2A(PP2A)能使AKT1失活。AKT信号通路参与几种通常在癌症中失控的过程，包括存活、增殖、血管生成、迁移、代谢和葡萄糖稳态(PMID: 24327805)。AKT1主要且研究最多的功能之一是通过抑制TSC1/2介导的对mTOR的抑制作用来促进mTOR信号的传导。mTOR信号可以调控细胞生长、蛋白合成、细胞增殖和细胞存活(PMID: 16095999; PMID: 16288292)。AKT1通常在多种人类实体瘤和血液恶性肿瘤中被激活，并成为治疗干预的目标。然而，由于AKT1信号传导影响许多重要的下游途径，例如葡萄糖代谢，以AKT1为治疗靶点可能是一个挑战。
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PIK3CA PIK3CA基因编码磷脂酰肌醇3-激酶(PI3K)的p110α催化亚基，PI3K是由受体酪氨酸激酶 [例如表皮生长因子受体(EGFR)和人表皮生长受体2 (HER2/ERBB2)] 驱动的信号转导通路中的整合信号分子。PI3K的活性形式由调节性p85亚单位和催化性p110亚单位组成。激活的PI3K将PIP2转化为PIP3，引发AKT(蛋白激酶B)的磷酸化和雷帕霉素(mTOR)激酶的激活。PI3K/AKT/mTOR信号通路通过调节各种细胞功能(包括细胞增殖、存活、代谢和细胞骨架重组)来促进肿瘤发生(PMID: 16453012)。
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PTEN PTEN基因编码的双特异性磷酸酶通过负向调控PI3K/AKT/mTOR信号通路发挥抑癌基因的作用，该通路参与调控细胞增殖、凋亡、迁移、基因组不稳定性和代谢。PTEN蛋白包含N末端的磷酸酶结构域(催化结构域)以及和脂质结合的C2结构域(PMID: 10555148)。PTEN可以通过在细胞膜上催化磷脂酰肌醇3,4,5-三磷酸(PIP3)去磷酸化为磷酯酰肌醇二磷酸PIP2而抑制PI3K-AKT信号转导(PMID: 9778245, PMID: 10339565, PMID: 18794879)，从而促使细胞周期阻滞在G1期或细胞凋亡。因此，PTEN的失活可导致PI3K/AKT途径上调进而促进肿瘤发生(PMID: 18455982)。过去十年里，PTEN以磷酸酶非依赖性形式发挥肿瘤抑制功能开始受到关注。例如，PTEN已被发现部分定位于细胞核内，调控染色体的完整性(PMID: 17218262)。这可能提示了一种针对PTEN缺陷型肿瘤的替代治疗策略，即利用这些肿瘤中发现的DNA修复缺陷治疗癌症(PMID: 20530668)。
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TSC1 TSC1(又称错构瘤蛋白)是mTOR促癌信号通路的关键负调控因子(PMID: 10205261)。mTOR信号通路在促进细胞生长和调节蛋白质合成的过程中起着核心作用。TSC1作为支架与TBC1D7和TSC2形成异聚体复合物，构成的TSC复合物可作为GTP酶活化蛋白(GAP)发挥作用并抑制RHEB蛋白活性(PMID:24714658)，RHEB是一种GTP酶，可作为小分子开关，当与GTP结合时激活下游mTORC1信号(PMID:24863881)。TSC1和TSC2可被多种激酶磷酸化(如AKT，RSK1，ERK，AMPK和GSK3)，从而通过多种不同的信号通路对mTOR通路进行调控抑制(PMID:16959574)。
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TSC2 TSC2是mTOR促癌信号通路的关键负调控因子(PMID: 10205261)。mTOR信号通路在促进细胞生长和调节蛋白质合成的过程中发挥重要作用。TSC2作为支架与TBC1D7和TSC1形成异聚体复合物，构成的TSC复合物可作为GTP酶活化蛋白发挥作用并抑制RHEB蛋白活性(PMID:24714658)，RHEB是一种GTP酶，可作为小分子开关，当与GTP结合时激活下游mTORC1信号(PMID:24863881)。TSC1和TSC2可被多种激酶磷酸化(如AKT，RSK1，ERK，AMPK和GSK3)从而通过多种不同的信号通路对mTOR通路进行抑制(PMID:16959574)。
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MTOR mTOR蛋白是一种丝氨酸/苏氨酸蛋白激酶，在协调细胞生长、蛋白合成和代谢信号等多个方面起到重要作用(PMID: 21157483)。mTOR通过两种不同的多蛋白复合物mTORC1和mTORC2发挥生理学功能(PMID: 21157483)，mTORC1和mTORC2由相同亚基mTOR、mLST8、DEPTOR (PMID: 19446321)以及独特的“定义”亚基组成。其中，mTORC1由PRAS40和RAPTOR亚基定义(PMID: 17510057)，而mTORC2由RICTOR、mSIN1和PROTOR1/2亚基定义(PMID: 16919458)。mTORC1最典型的两种下游底物S6K和4EBP1决定了蛋白合成速率、营养反应和肿瘤快速生长所需的许多其他特征(PMID: 15314020)。因此，mTORC1抑制剂已经在多种恶性肿瘤的治疗中得到应用。mTORC2可与PDK1协同磷酸化并激活AKT。目前已知mTORC2参与调控细胞骨架、细胞周期进展和细胞存活(PMID: 18566586)。
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STK11 STK11是一个抑癌基因，编码丝氨酸/苏氨酸激酶11，又称肝脏激酶B1(LKB1)。STK11通过与假激酶STRAD和衔接蛋白MO25形成具有生物活性的异源三聚体来激活AMPK(腺苷酸活化蛋白激酶)信号通路。激活的AMPK磷酸化TSC2和Raptor，从而导致mTORC1的过度激活(PMID: 18439900)。STK11-AMPK信号调节在细胞代谢、能量稳态以及细胞对DNA损伤和营养缺乏的应激反应中起重要作用(PMID: 21396365)。为应对肿瘤中经常存在的代谢应激和缺氧条件，STK11-AMPK信号被激活，从而抑制合成代谢，诱导细胞周期阻滞，最终抑制肿瘤生长(PMID: 25244018)。研究表明，在营养不良的条件下，STK11的缺失会导致细胞极性紊乱和肿瘤生长。
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KRAS KRAS是小分子GTP酶RAS家族的成员，该家族催化GTP水解为GDP。在生理条件下，这些RAS蛋白在活性(GTP结合)和非活性(GDP结合)状态间循环，以激活受体酪氨酸激酶(RTK)下游的MAPK和PI3K致癌途径信号传导(PMID: 22189424)。RAS酶的功能受到鸟嘌呤核苷酸交换因子(GEF)如SOS的调节，这些因子可以使GDP与GTP交换，也可以通过GTP酶活化蛋白如NF1调节，提高RAS水解GTP的能力。一旦被激活，RAS可通过激活不同的细胞内信号传导途径(包括RAF/MEK/ERK和PI3K/AKT/mTOR途径)介导细胞增殖和其他细胞功能的调节。
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NRAS NRAS是小分子GTP酶RAS家族的成员，该家族催化GTP水解为GDP。在生理条件下，这些RAS蛋白在活性(GTP结合)和非活性(GDP结合)状态间循环，以激活受体酪氨酸激酶(RTK)下游的MAPK和PI3K致癌途径信号传导(PMID: 22189424)。RAS酶的功能受到鸟嘌呤核苷酸交换因子(GEF)如SOS的调节，这些因子可以使GDP与GTP交换，也可以通过GTP酶活化蛋白如NF1调节，提高RAS水解GTP的能力。一旦被激活，RAS可通过激活不同的细胞内信号传导途径(包括RAF/MEK/ERK和PI3K/AKT/mTOR途径)介导细胞增殖和其他细胞功能的调节。
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HRAS HRAS是小分子GTP酶RAS家族的成员，该家族催化GTP水解为GDP。在生理条件下，这些RAS蛋白在活性(GTP结合)和非活性(GDP结合)状态间循环，以激活受体酪氨酸激酶(RTK)下游的MAPK和PI3K致癌途径信号传导(PMID: 22189424)。RAS酶的功能受到鸟嘌呤核苷酸交换因子(GEF)如SOS的调节，这些因子可以使GDP与GTP交换，也可以通过GTP酶活化蛋白如NF1调节，提高RAS水解GTP的能力。一旦被激活，RAS可通过激活不同的细胞内信号传导途径(包括RAF/MEK/ERK和PI3K/AKT/mTOR途径)介导细胞增殖和其他细胞功能的调节。
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BRAF BRAF是MAP激酶级联信号通路中一种重要的丝氨酸/苏氨酸蛋白激酶。当生长因子与受体结合时，受体的酪氨酸激酶结构域激活并通过RAS激酶向下游发出信号。RAF蛋白是活化RAS蛋白的直接效应因子(PMID: 8503013; PMID: 8327501)。RAF二聚体(BRAF，ARAF，CRAF)通过磷酸化和激活MEK进一步传递该级联信号(PMID: 24957944)。激活的MEK-ERK信号可以促进细胞增殖、存活、迁移和分化。BRAF的存在对正常发育至关重要；然而，不受抑制的BRAF信号可以促进肿瘤发生。
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ARAF ARAF是一种丝氨酸/苏氨酸蛋白激酶，在有丝分裂原激活蛋白激酶(MAPK)信号传导途径中发挥信号传递作用。ARAF是RAF激酶家族的一员，该家族还包括BRAF和CRAF (PMID: 17555829)。ARAF在各个组织中都有广泛表达，在泌尿生殖器官中的表达量最高(PMID: 10768864)。当RAS蛋白被激活时，ARAF与BRAF、CRAF形成二聚体进而导致下游信号效应因子MEK和ERK的磷酸化激活。RAS级联信号的激活最终会促进细胞生长和增殖(PMID: 21779496)。
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MAP2K1 MAP2K1(又称MEK1)是一种丝氨酸/苏氨酸蛋白激酶，在丝裂原激活蛋白激酶(MAPK)信号级联反应中作为效应蛋白发挥作用(PMID: 17496922)。MAPK信号通路参与多种细胞进程的调控，包括细胞增殖、分化、细胞粘附和转录(PMID: 17496922)。MAPK信号转导是以三级激酶级联的方式进行的，MEK1活性依赖于上游RAF激酶的磷酸化。活化的MEK1会依次磷酸化ERK1/2(细胞外信号调节激酶1/2)，后者可调控某些转录因子的活性(PMID: 22177953)。这些由生长因子、细胞因子和激素激活上游受体酪氨酸激酶进而触发的信号转导事件最终会导致调控细胞生长、分化、增殖和存活的关键调节因子的表达发生改变(PMID: 11242034)。MEK1信号通路的异常调节通常与RAS和RAF基因突变有关(PMID: 12509763)。MAPK信号通路的过度激活在人类癌症中十分常见，如黑色素瘤、结直肠癌和肺癌等。
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MAP2K2 MAP2K2(又称MEK2)是一种丝氨酸/苏氨酸蛋白激酶，在丝裂原激活蛋白激酶(MAPK)信号级联反应中作为效应蛋白发挥作用(PMID: 17496922)。MAPK信号通路参与多种细胞进程的调控，包括细胞增殖、分化、细胞粘附和转录(PMID: 17496922)。MAPK信号转导是以三级激酶级联的方式进行的，MEK1活性依赖于上游RAF激酶的磷酸化。活化的MEK1会依次磷酸化ERK1/2(细胞外信号调节激酶1/2)，后者可调控某些转录因子的活性(PMID: 22177953)。这些由生长因子、细胞因子和激素激活上游受体酪氨酸激酶进而触发的信号转导事件最终会导致调控细胞生长、分化、增殖和存活的关键调节因子的表达发生改变(PMID: 11242034)。MAPK信号通路的过度激活在人类癌症中十分常见；然而，在原发性肿瘤中MAP2K2的致癌突变并不常见(PMID: 24840079)。
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JAK1 JAK1编码的Janus激酶是JAK家族酪氨酸激酶中的一员，在全身细胞中广泛表达(PMID: 9096349)。JAK1与细胞因子受体形成复合物来启动细胞因子介导的信号传导。细胞因子与其受体结合后发生JAK1寡聚化，使细胞因子受体胞质区的酪氨酸残基磷酸化，导致下游靶点(如STAT1-6)的募集和激活(PMID: 25057888)，然后STAT蛋白被转运到细胞核内并作为转录因子介导多种细胞功能，包括增殖、分化和抗原呈递(PMID: 23406773)。在急性淋巴细胞白血病和其他血液系统恶性肿瘤中已检测到JAK1的几个激活突变，在这些情况下，JAK/STAT途径的抑制剂被认为是一种潜在的治疗方法(PMID: 23340138)。然而，在妇科肿瘤和其他微卫星不稳定的癌症中，经常有报道发现可导致JAK1功能丧失的截短突变(PMID: 29121062)。JAK1功能丧失突变可能通过肿瘤抗原呈递受损和消除JAK1介导的干扰素应答来介导这些肿瘤的免疫逃逸(PMID: 29121062)。
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JAK2 JAK2是一种非受体酪氨酸激酶，可调节细胞因子信号，并需要一个同源受体来响应细胞外细胞因子信号(PMID: 1848670)。JAK2信号的激活对于红细胞和血小板等血细胞的正常生成是必需的(PMID: 9590173)。JAK2的激活可导致下游效应分子(例如STAT3/5和MAPK)的募集和磷酸化，从而使这些信号分子易位至核内激活转录(PMID: 25057888)。
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JAK3 JAK3编码的Janus 3激酶是一种非受体酪氨酸激酶。JAK3的激活可导致STAT蛋白家族的激活(PMID: 8986719)，也可以通过MAPK和AKT信号通路发出信号(PMID: 22120524)。JAK3参与对细胞因子、趋化因子和代谢反应的调控(PMID: 26451047)。JAK3信号传导在T细胞发育(包括调节T细胞凋亡)中发挥关键作用(PMID: 11134353)。临床上JAK3信号传导可介导自身免疫疾病和移植排斥(PMID: 26230873)。
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ABL1 ABL1 (C-ABL)是一种非受体酪氨酸激酶，ABL1融合基因被明确为人类白血病中主要染色体易位事件之一(PMID: 23842646)。C-ABL是一种原癌基因，编码的非受体蛋白激酶定位于细胞质和细胞核。有趣的是，c-ABL可以根据其细胞定位对细胞功能具有激动作用和拮抗作用。核c-ABL在DNA修复损伤、细胞生长和凋亡中发挥关键作用，并介导p53功能(PMID: 18851712; PMID: 23842646)。相反，胞质c-ABL在细胞外刺激因子作用下促进细胞生长、存活和细胞骨架重塑。事实上，c-ABL被认为参与由上皮-间充质转化(EMT)、PDGFR、EGFR和HER2生长因子受体诱导的细胞内肿瘤促进信号通路(PMID: 17018282; PMID: 21257711; PMID: 17700528)。c-ABL的活性受到分子内SH2和SH3结构域的负调控，因此，激酶结构域处于封闭和非活性构象。这些结构域的破坏可导致c-ABL的组成性激活。基因组变异、蛋白水平上升或异常激活将导致c-ABL激酶活性增加，继而通过增加促有丝分裂信号，降低生长因子受体的内化，促进癌细胞转化以及诱导细胞迁移和侵袭来促进肿瘤发生
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ALK ALK (人类间变性淋巴瘤激酶)是一种受体酪氨酸激酶，属于胰岛素受体家族。野生型ALK在神经系统的发育中起功能性作用，参与对细胞外刺激因子的响应，控制细胞增殖、存活和分化。属于分泌型生长因子的多效生长因子(PTN)和中期因子(MK)被认为是ALK的生理性配体(PMID: 11278720; PMID: 12122009)，然而，对于PTN和MK是否是真正的配体尚存在争议(PMID: 15886198)。ALK一旦被激活就会通过PI3K/AKT，MAPK/ERK和STAT3途径传递信号(PMID: 19459784)。
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ROS1 c-ROS原癌基因1(ROS1)是禽类肉瘤病毒UR2转化基因v-ros的人类同源基因，编码胰岛素受体亚家族的受体酪氨酸激酶(RTK)。c-ROS是一种孤儿受体酪氨酸激酶，在肺组织中高度表达，其正常生理性配体未知(PMID: 18778756; PMID: 22500682)。然而，c-ROS与间变性淋巴瘤激酶(ALK)进化相关，其信号可促进PLCγ，MAPK和PI3K信号传导，并影响细胞增殖和细胞间相互作用(PMID: 22500682; PMID: 8999820)。c-ROS的前1861个N-末端密码子构成一个非常大的胞外结构域，而c-ROS的C-末端结构域的464个残基构成细胞质结构域(PMID: 2352949; PMID: 22500682)。c-ROS被确认为非小细胞肺癌(NSCLC)和胆管癌的致癌基因，c-ROS的细胞质激酶结构域与其他N末端伴侣基因融合(PMID: 22500682)。虽然许多下游信号蛋白已被证明与c-ROS相互作用，但ROS1基因融合的转变主要表现为细胞骨架蛋白的磷酸化和PI3K通路的激活(PMID: 8999820; PMID: 11094073; PMID: 11799110; PMID: 12646574; PMID: 22500682)。
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RET RET (Rearranged During Transfection)基因编码跨膜受体酪氨酸激酶，优先在神经嵴源性和泌尿生殖细胞上表达(PMID: 8018563)。RET转录物的选择性剪接可产生三个在C末端分别含51，43和9个氨基酸的亚型，分别被称为RET51，RET43和RET9。RET可以与胶质细胞源性神经营养因子(GDNF)家族(GDNF，NRTN，ARTN和PSPN)相结合；然而，RET不能独立地结合GDNF家族配体(GFLF)，它必须与预先绑定到四种GDNF家族受体-a(GFRa)蛋白之一的GFLs结合。该复合物诱导RET的同源二聚化，反式磷酸化和其酪氨酸激酶活性的激活(PMID: 15982921)。这些磷酸化的残基是多种接头蛋白和效应蛋白的对接位点，可激活Ras/MAPK，PI3K/AKT，JNK，p38和PLCg信号级联反应。RET的致癌性激活突变能以不依赖配体的方式放大这些级联信号，并激活替代信号级联反应，例如STAT3和STAT1，以促进肿瘤发生(PMID: 19934298; PMID: 19028457)。除了形成同二聚体之外，Ret也已发现可在MET扩增的肺癌细胞中与MET结合(PMID: 21847121)，并且IL-6R和ERa的功能性相互作用调节雌激素受体a (Era)+乳腺癌的肿瘤生长和转移(PMID: 21251878; PMID: 23868506)。
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MET MET由原癌基因c-MET编码，具有酪氨酸激酶活性，是肝细胞生长因子(HGF)的受体。c-MET主要在上皮细胞中表达。HGF由周围的间充质细胞表达和释放，在正常生理条件下，HGF与c-MET结合会刺激c-MET二聚化和自磷酸化，从而激活多种信号通路，包括RAS/RAF/MAPK，PI3K/AKT/MTOR，SRC/FAK和JUN，进而调控细胞周期进程、细胞增殖、细胞运动和迁移以及细胞存活(PMID: 22128285)。正常情况下，c-MET信号传导对于胚胎发育和组织修复至关重要(PMID: 7651534; PMID: 15070743)。肿瘤中MET的突变、扩增或过度表达使得c-MET组成性激活，从而促进肿瘤细胞不受控制的增殖和转移。
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ATM ATM是一种丝氨酸-苏氨酸蛋白激酶，属于丝氨酸-苏氨酸激酶家族的成员，通过激活独特的DNA修复和信号传导途径来协调细胞对DNA损伤的反应(PMID: 22079189)。ATM胚系突变与共济失调毛细血管扩张症(ataxia telangiectasia，简称A-T症)有关(PMID: 27283171)，A-T症患者也容易罹患多种癌症，特别是儿童淋巴瘤、白血病和乳腺癌(PMID: 21792198)。ATM体细胞突变常见于子宫内膜癌、结肠癌、胰腺癌和乳腺癌(PMID: 27283171，PMID: 27413114)和尿路上皮癌(PMID: 29682192)。
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BRCA1 BRCA1(乳腺癌易感基因1)是一种抑癌基因，基因表达产物具有E3泛素连接酶的多功能活性。BRCA1参与调控多种细胞进程，包括转录、蛋白质泛素化、细胞周期调控和DNA损伤反应，在同源重组过程中对DNA修复具有特别重要的作用(PMID: 22193408)。BRCA1可以与已知的肿瘤抑制因子(包括RAD51，BRCA2，BARD1和PALB2)形成蛋白质复合物；具体来说，BRCA1和BARD1促进DNA末端切除并增强重组酶RAD51的活性(PMID: 28976962)。BRCA1是第一个被鉴定和克隆的乳腺癌和卵巢癌易感基因；该基因的遗传突变导致罹患这些癌症的终生风险增加。在携带BRCA1始祖突变的德系犹太人患者中，BRCA1突变可致罹患乳腺癌的终生风险为70-80%，患卵巢癌终生风险为50%，且患前列腺癌的风险增加(PMID: 22193408)。遗传性乳腺癌和卵巢癌(HBOC)综合征，该病通过常染色体显性遗传(PMID: 22193408)。BRCA1最近还被确认为FANCS亚型范可尼贫血的易感基因，该病是一种罕见的范可尼贫血亚型，由BRCA1基因的双等位基因突变所致(PMID: 25472942)。BRCA1突变可能会破坏促进DNA修复的蛋白间相互作用(PMID: 10918303)。
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BRCA2 BRCA2(乳腺癌易感基因2)是一种抑癌基因，表达产物起着DNA修复蛋白的作用。BRCA2参与调控多种细胞进程，包括转录、细胞周期调控和DNA损伤反应，BRCA2对同源重组过程中的DNA修复具有特别重要的作用(PMID: 22193408)。BRCA2可以与已知的肿瘤抑制因子(包括RAD51，BRCA1和PALB2)形成蛋白质复合物：具体来说，BRCA2和单链DNA结合并将RAD51单体招募至DNA双链断裂位点(PMID: 28976962)。RAD51需要BRCA1-BRCA2-PALB2复合物才能启动同源重组过程(PMID: 11239455)。BRCA2是一种肿瘤抑制蛋白，如果BRCA2基因的一个拷贝在胚系失活，会导致遗传性乳腺癌和卵巢癌(HBOC)综合征，该病通过常染色体显性遗传(PMID: 15800615)。BRCA2还被确认为范可尼贫血的易感基因，该基因的双等位基因突变会导致范可尼贫血的发生(PMID: 12065746)。
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BARD1 BARD1是一种接头蛋白，当与BRCA1结合时具有E3连接酶活性(PMID: 11573085)。BRCA1是一个特征明确的肿瘤抑制因子，其功能是通过同源重组和细胞周期检查点激活来修复DNA双链断裂，从而维持基因组完整性(PMID: 11278247)。BARD1-BRCA1复合物涉及多种细胞进程，包括DNA修复、基因表达、复制叉稳定性维持以及染色质调节的各个阶段(PMID: 27239795)。BARD1与BRCA1相互作用，结合至新复制DNA上的损伤部位，并对组蛋白H2A的赖氨酸残基进行单泛素化修饰(PMID: 30804502)。然后，BARD1-BRCA1复合体介导DNA损伤部位的切除，将拮抗性修复蛋白53BP1驱逐出去，并募集一些DNA损伤反应蛋白(包括RAD51)到受损部位(PMID: 27239795)。聚(ADP-核糖)介导了早期BRCA1-BARD1复合物募集到受损DNA位点的过程(PMID: 25634209)。乳腺癌小鼠模型中BARD1的失活导致了与BRCA1缺失相似的表型，说明BRAD1和BRCA1可能有相似的基因功能(PMID: 18443292)。
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PALB2 PALB2(BRCA2的伴侣和定位子，又称FANCN)编码DNA修复因子和BRCA2结合蛋白(PMID: 16793542)。PALB2在同源重组(HR)途径中充当支架蛋白用于修复双链DNA断裂，可能介导损伤位点上BRCA2和RAD51的募集(PMID: 19423707)。PALB2还与BRCA1相互作用，可能在HR通路中充当BRCA1和BRCA2之间的中介因子(PMID: 19584259)。临床前数据表明，BRCA1和BRCA2的突变可消除与PALB2的相互作用并破坏HR介导的DNA修复(PMID: 16793542)。PALB2的胚系双等位基因突变与遗传性疾病范可尼贫血有关，后者易罹患多种癌症(PMID: 17200672)。
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RAD51B RAD51B(又称RAD51L1)是RAD51重组酶家族的一员，该家族在同源重组(HR)介导的双链DNA断裂(DSB)修复中发挥作用。RAD51B与同源修复蛋白RAD51相结合，在DSB修复通路的早期阶段发挥作用：切除DSB断裂位点两侧的5'末端DNA链，RAD51聚集在单链突出端，形成核蛋白细丝(PMID: 25833843)，然后RAD51促使同源DNA模板的识别配对并启动单链入侵和链置换过程(PMID: 20930833)。电离辐射后RAD51B表达上调(PMID: 9788630)，而RAD51B的功能对于形成DNA损伤修复复合物(包括RAD51旁系同源蛋白、XRCC2和XRCC3)是必需的(PMID: 10938124)。除DNA损伤修复途径外，RAD51B还可以通过磷酸化p53，CDK2和cyclinE影响细胞周期的调控，导致G1细胞周期延迟(PMID: 10623463)。
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RAD51C RAD51C在人类癌症中很少发生突变。RAD51C(也称为RAD51L2)是RAD51重组酶家族的成员，该家族在同源重组(HR)介导的双链DNA断裂(DSB)修复中起作用。RAD51C与同源修复蛋白RAD51相结合，在DSB修复通路的早期阶段发挥作用：切除DSB断裂位点两侧的5'末端DNA链，RAD51聚集在单链突出端，形成核蛋白细丝(PMID: 25833843)，然后RAD51促使同源DNA模板的识别配对并启动单链入侵和链置换过程(PMID: 20930833)。RAD51C是DSB修复复合物BCDX2(包括RAD51B、RAD51C、RAD51D和XRCC2)和CX3(包括XRCC3)的组成部分，它们分别在DNA损伤稳定和RAD51细丝装配过程中发挥作用(PMID: 23149936)。
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RAD51D RAD51D(又称RAD51L3)是RAD51重组酶家族的一员，该家族在同源重组(HR)介导的双链DNA断裂(DSB)修复中发挥作用。RAD51D与同源修复蛋白RAD51相结合，在DSB修复通路的早期阶段起作用：切除DSB断裂位点两侧的5'末端DNA链，RAD51聚集在单链突出端，形成核蛋白细丝(PMID: 25833843)。然后RAD51促使同源DNA模板的识别配对并启动单链入侵和链置换过程(PMID: 20930833)。生化研究表明，RAD51D可与其他三个RAD51旁系同源物(XRCC2，RAD51B和RAD51C)形成复合物(称作BCDX2复合物)(PMID: 16236763)。该复合物在HR早期阶段(即RAD51被招募到损伤DNA位点之前)发挥作用(PMID: 21821141)。RAD51D还与DNA结合和复制蛋白(包括SFPQ，NONO，MCM2和MSH2)相互作用(PMID: 19658102)，并在端粒维持中发挥作用(PMID: 15109494)。RAD51D缺陷型细胞会发生自发性染色体畸变并表现出G2周期阻滞(PMID: 15781618)。
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RAD54L RAD54L是解旋酶SNF2家族的成员，在同源重组和DNA修复过程中作为染色质重塑蛋白参与修复双链断裂(PMID: 19671661)。RAD54L与同源修复蛋白RAD51结合，使DNA拓扑结构发生改变，导致DNA配对和重组(PMID: 12359723)。RAD54L-RAD51相互作用可导致复制因子复合物运动前的超螺旋状态以及DNA修复期间D环的稳定(PMID: 16818238)。在重组修复起始阶段，RAD54L可保持RAD51与单链和双链DNA的稳定结合(PMID: 12566442)。
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CDK12 CDK12(周期蛋白依赖性激酶12)是一种参与调节细胞周期和许多DNA损伤修复基因转录延伸过程的激酶(PMID: 22012619)。转移性前列腺癌和浆液性卵巢癌中已观察到CDK12的复发性失活突变(PMID: 28843286, PMID: 26787835)。体外实验中CDK12与RNA聚合酶II(RNAP)的C末端结构域(CTD)相互作用并使其磷酸化(PMID: 11683387)并与Cyclin K形成复合物，该复合物可通过调控DNA损伤修复基因(如BRCA1，ATR，FANCI和FANCD2)的表达来维持基因组稳定性。CDK12/cyclin K复合物的缺失会使HEK293细胞对各种DNA损伤剂(包括喜树碱，依托泊苷和丝裂霉素C)敏感(PMID: 24662513)。
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CHEK1 CHEK1(检查点激酶1)是一种丝氨酸/苏氨酸激酶，在DNA损伤修复途径中起着不可或缺的作用，可阻滞受损细胞的细胞周期。CHEK1被ATR和ATM激酶磷酸化激活启动DNA损伤应答(PMID: 12781359)。CHEK1被激活后会充当效应激酶，介导下游信号传导，从而导致多种细胞应答，包括细胞周期检查点激活，细胞周期停滞，DNA修复和/或凋亡以及复制叉的稳定(PMID: 23508805)。特别是，活化的CHEK1将细胞周期蛋白B1-CDK1复合物维持在无活性的细胞质状态，从而阻止G2向M期的过渡以及有丝分裂过程中受损伤的染色单体的分离(PMID: 21532626)。
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CHEK2 CHEK2(检查点激酶2)是一种丝氨酸/苏氨酸激酶，在DNA损伤修复途径中起着不可或缺的作用，可阻滞受损细胞的细胞周期。CHEK2被ATR和ATM激酶磷酸化激活启动DNA损伤应答(PMID: 12781359)。CHEK2被激活后会充当效应激酶，介导下游信号传导，从而导致多种细胞应答，包括细胞周期检查点激活，细胞周期停滞，DNA修复和/或凋亡(PMID: 25404613)。CHEK2也在有丝分裂过程中通过维持染色体稳定性发挥重要作用(PMID: 20364141)。
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FANCL FANCL是一种E3泛素连接酶，属于范可尼贫血(FA)蛋白。这些蛋白通过利用BRCA1/2蛋白作为支架定位至DNA损伤部位，从而协调同源重组修复(HRR)途径，特别是链间DNA交联(PMID: 21605559)。FANCD2的单泛素化激活在这种DNA修复过程中不可或缺(PMID: 17352736)。FANCD2的单泛素化依赖于多种FA核蛋白复合物，包括FANCL、FANCA、FANCB、FANCC、FANCE、FANCF、FANCG和FANCM。FANCL是FANCD2单泛素化并发挥HRR活性所需的泛素连接酶(PMID: 20154706)。
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BRIP1 BRIP1(BACH1和FANCJ)是RecQ DEAH解旋酶家族的成员。DEAH解旋酶参与前体mRNA的剪接以及核糖体的合成(PMID: 20168331)。BRIP1与BRCA1相互作用，结合生成的复合物在正常的BRCA1双链断裂修复功能发挥重要作用(PMID: 17033622)。
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CDK4 细胞周期蛋白依赖性激酶4(CDK4)是由CDK4基因编码的丝氨酸/苏氨酸激酶，在所有细胞类型中广泛表达。该激酶对于细胞周期G1至S期的过渡很重要。有丝分裂原可刺激细胞合成细胞周期蛋白D，细胞周期蛋白D激活CDK4，并和CDK4/6形成复合物(PMID: 16603719; PMID: 7954824; PMID: 1423597)。CDK4/6二聚体的激活使视网膜母细胞瘤肿瘤抑制蛋白(Rb)磷酸化并失活，进而导致E2F转录因子家族的转录激活。这些因素诱导细胞分裂介质的表达，导致细胞持续分裂，促进肿瘤生长。CDK4/6通过与p16INK4a相互作用(由细胞周期蛋白依赖性激酶抑制剂2A基因，即CDKN2A编码)而受到负调控并失活。
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CDK6 细胞周期蛋白依赖性激酶6(CDK6)是由CDK6基因编码的丝氨酸/苏氨酸激酶，在所有细胞类型中广泛表达。该激酶对于细胞周期G1至S期的过渡很重要。有丝分裂原可刺激细胞合成细胞周期蛋白D，与细胞周期蛋白依赖性激酶4组装并激活CDK6 (PMID: 16603719, PMID: 7954824, PMID: 1423597)。CDK4/6二聚体的激活使视网膜母细胞瘤肿瘤抑制蛋白(Rb)磷酸化并失活，进而导致E2F转录因子家族的转录激活。这些因素诱导细胞分裂介体的表达，导致细胞持续分裂，促进肿瘤生长。CDK4/6通过与p16INK4a相互作用(由细胞周期蛋白依赖性激酶抑制剂2A基因，即CDKN2A编码)而受到负调控并失活。由于CDK6的功能是促进细胞增殖，因此CDK6表达和活性的增加可能是肿瘤发生的重要驱动因素。
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CCND1 CCND1 (细胞周期蛋白D1)蛋白通过激活细胞周期蛋白依赖性激酶4 (CDK4)和CDK6，将细胞外生长因子信号与细胞周期的启动相连接(PMID: 8114739)。CDK4和CDK6与细胞周期蛋白D1形成复合物后磷酸化视网膜母细胞瘤蛋白(RB)并使其失活，进而诱导由E2F转录因子家族调控的基因程序性表达，这在细胞周期从G1到S期的过渡中很重要(PMID: 8114703)。细胞周期蛋白D1的功能包括调控细胞生长、增殖、转录、DNA修复和迁移(PMID: 21734724)。细胞周期蛋白D1在人类肿瘤中的扩增/过表达是致癌的，因为它可使癌细胞独立于细胞外生长信号进行增殖(MID: 20029424)。
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CCND2 CCND2 (细胞周期蛋白D2)蛋白通过激活细胞周期蛋白依赖性激酶4 (CDK4)和CDK6，将细胞外生长因子信号与细胞周期的启动相连接(PMID: 8114739)。CDK4和CDK6与细胞周期蛋白D2形成复合物后磷酸化视网膜母细胞瘤蛋白(RB)并使其失活，进而诱导由E2F转录因子家族调控的基因程序性表达，这在细胞周期从G1到S期的过渡中很重要(PMID: 12432268)。细胞周期蛋白D2对于细胞周期的启动不是必需的(PMID: 15315760)，并且在人类癌症中很少有扩增或过表达。然而在胰腺癌、乳腺癌和前列腺癌中可经常观察到CCND2启动子的甲基化导致蛋白表达缺失，这表明CCND2在某些情况下可能发挥抑癌作用(PMID: 21734724)。CCND2的新发突变可增加蛋白质的稳定性，可能导致巨脑-多小脑回-多指/趾-脑积水综合征，其特征是大脑发育异常(PMID: 24705253)。
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CCND3 CCND3 (细胞周期蛋白D3)蛋白通过激活细胞周期蛋白依赖性激酶4 (CDK4)和CDK6，将细胞外生长因子信号与细胞周期的启动相连接(PMID: 8114739)。CDK4和CDK6与细胞周期蛋白D3形成复合物后磷酸化视网膜母细胞瘤蛋白(RB)并使其失活，进而诱导由E2F转录因子家族调控的基因程序性表达，这在细胞周期从G1到S期的过渡中很重要(PMID: 12432268)。细胞周期蛋白D3对于细胞周期的启动不是必需的(PMID: 15315760)，并且在人类癌症中很少有扩增或过表达(PMID: 21734724)。然而，细胞周期蛋白D3-CDK6复合物可能通过抑制糖酵解途径中的关键酶在肿瘤细胞的代谢和存活中发挥促进作用(PMID: 28607489)。
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CDKN2A CDKN2A (细胞周期蛋白依赖性激酶抑制剂2A)基因是位于9p21的抑癌基因，编码两个不相关的可变阅读框架蛋白p16INK4a和p14ARF(PMID: 9823374)。P16INK4a抑制CDK4/6介导的视网膜母细胞瘤蛋白(Rb)磷酸化。Rb蛋白在其低磷酸化状态下螯合转录因子E2F，从而抑制细胞周期从G1到S期的过渡(PMID: 7877684, PMID: 7954450)。P14ARF通过抑制E3泛素连接酶MDM2(一种负责降解p53的蛋白质)来保持肿瘤抑制基因p53功能的稳定。CDKN2A的缺失会导致Rb和p53通路的失活，进而导致细胞增殖失控(PMID: 18613999)。
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RB1 RB1 (RB转录共抑制因子1)是细胞分裂过程中从G1向S期过渡的关键负调控因子(PMID: 15084261)，在细胞分化、存活、衰老、表观遗传调控和基因组稳定性中也起着重要作用(PMID: 21295686, PMID: 23359405, PMID: 22293180)，并且是CDK4和CDK6的下游靶标(PMID: 31174843)。Rb1的失活和Rb1肿瘤抑制功能的丧失已在许多早期癌症中被发现(PMID: 26160835)，并且在视网膜母细胞瘤中经常发生(PMID: 32222358)。
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EGFR 表皮生长因子受体(EGFR，也称为HER1/ERBB1)是I型受体酪氨酸激酶亚成员，由三部分组成：含有配体结合区的细胞外域、单次跨膜的疏水α螺旋区、含有酪氨酸蛋白激酶(RTK)活性的细胞内结构域。EGFR属于ErbB细胞膜受体家族，该家族还包括：ERBB2 (HER2/Neu)、ERBB3 (HER3)以及ERBB4 (HER4) (PMID: 11252954; PMID: 15864276; PMID: 20887192)。至少有6种EGFR配体：EGF、转化生长因子α(TGF-α)、肝素结合性表皮生长因子(HB-EGF)、双调蛋白、β细胞调节素和表皮调节素。胞外配体结合并激活EGFR后，EGFR能够通过多种信号通路介导胞内信号传导，这些信号通路包括RAS/RAF/MAPK，PI3K/AKT/mTOR以及STAT(PMID: 19922469)。这些信号通路的激活能够促进细胞的增殖、迁移、分化，并能减少细胞死亡(PMID: 15217963; PMID: 15219619)。
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ERBB2 ERBB2(又称HER2)是一种跨膜受体，同时也是受体酪氨酸激酶ERBB家族的成员，该家族还包括EGFR，ERBB3和ERBB4。ERBB2不与其配体直接结合。相反，它通过结合其他与配体结合的ERBB受体来增强其活性(PMID: 12620236)。ERBB2可以与任何其他的EGFR家族受体形成异源二聚体(PMID: 9130710)，从而启动下游多个信号通路的激活，包括MAPK和PI3K/AKT/mTOR信号通路(PMID: 12853564)。ERBB2还可以同源二聚化并启动MAPK、SRC、PI3K和STAT信号传导(PMID: 22785351)。ERBB2介导的信号通路的激活最终会导致细胞增殖、迁移和分化(PMID: 18045542)。
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ERBB3 ERBB3(又称HER3)是一种跨膜受体，同时也是受体酪氨酸激酶ERBB家族的成员，该家族还包括EGFR，ERBB2和ERBB4 (PMID: 19208461)。ERBB3的独特之处在于其激酶活性有限，比其家族成员EGFR低约1000倍(PMID: 20351256)。因此，ERBB3无法形成同源二聚体(PMID: 15225657)，必须与其他ERBB家族成员形成异源二聚体来启动下游信号传导(PMID: 8632008)。ERBB3优先与ERBB2形成异源二聚体，激活多种信号通路，包括MAPK、PI3K/AKT/mTOR、SRC和STAT通路(PMID: 8264617)。ERBB2扩增肿瘤的临床前模型研究表明，ERBB2扩增细胞完全依赖于ERBB3来驱动增殖和存活(PMID: 19536107)。
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||||
ERBB4 ERBB4(又称HER4)是一种跨膜受体，同时也是受体酪氨酸激酶ERBB家族的成员，该家族还包括EGFR，ERBB2和ERBB3 (PMID: 25492965)。ERBB4的配体包括神经调节蛋白(NRG1-4)、β细胞调节素(BTC)、HB-EGF或表皮调节素(EPR)，与配体的结合可激活受体并启动下游信号传导途径，包括经典的MAPK和PI3K/AKT/mTOR信号通路。ERBB4优先与ERRB2结合，也可与其他ERBB亚型结合形成具有激酶活性的二聚体(PMID: 11252954)。
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ESR1 ESR1编码一种核受体——雌激素受体α(ERα)蛋白。ERα在性生殖器官(特别是在女性生殖器官)的发育和维持中起主要作用(PMID: 10368776)。与雌激素(ERα配体)的结合可诱导ERα发生构象改变，使该受体从HSP90解离并与其自身或ERβ二聚化，然后，二聚体转移到核内，或直接，或通过DNA中的雌激素反应元件(ERE)，或通过其他转录因子复合物(例如FOS/JUN/SP-1)，与靶基因的启动子和增强子区结合(PMID: 10681512)。结合后的雌激素受体会募集协同调节因子，以调控ESR1靶基因的转录，进而导致增殖、迁移和分化的改变(PMID: 21779010)。ERα的缺失延迟了WNT1-和ERBB2突变诱导小的乳腺肿瘤的发展(PMID: 12019156)，并减少了雌激素和致癌物诱导的小鼠乳腺肿瘤的发生(PMID: 11156389)，表明ERα参与了肿瘤的发生。
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FGFR1 FGFR1是一种酪氨酸激酶受体，是成纤维细胞生长因子受体(FGFR)家族的成员。该受体由含有两个或三个类Ig环的胞外结构域、跨膜区以及具有激酶活性的胞浆区结构域组成。FGF配体与FGFR1结合导致下游信号通路(包括PI3K/AKT和MAPK通路)快速二聚化并激活(PMID: 16597617)。FGFR1广泛表达于各个组织，对于多种细胞功能(如胚胎发育、骨骼生成、有丝分裂和分化)是必需的。细胞特异性FGFR1调控取决于组织分布和配体可用性(PMID: 16597617)。
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||||
FGFR2 FGFR2是一种酪氨酸激酶受体，是成纤维细胞生长因子受体(FGFR)家族的成员。FGF配体与FGFR2结合导致下游信号通路(包括PI3K/AKT和MAPK通路)快速二聚化并激活(PMID: 28030802)。FGFR2在外胚层衍生组织和内皮组织中表达，FGFR2信号传导有助于多种细胞功能，包括体内稳态、有丝分裂、增殖和分化(PMID: 20094046)。
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||||
FGFR3 FGFR3是一种酪氨酸激酶受体，是成纤维细胞生长因子受体(FGFR)家族的成员。FGF配体与FGFR3结合导致下游信号通路(包括PI3K/AKT和MAPK通路)快速二聚化并激活(PMID: 28030802)。FGFR3在神经元和感觉细胞中高表达，并且FGFR3信号传导促进多种细胞功能，包括增殖、分化、细胞迁移和凋亡(PMID: 20094046)。FGFR3基因的可变剪接可产生两种同工型蛋白，即FGFR3b和FGFR3c，它们具有独特的组织表达模式和特异性配体结合(PMID: 7512569)。
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IDH1 IDH1(异柠檬酸脱氢酶1)是三羧酸循环中的一种关键酶，催化异柠檬酸氧化脱羧生成α-酮戊二酸(α-KG)。IDH1主要在细胞质和过氧化物酶体中表达，利用NADP(+)作为电子受体，在细胞质NADPH的生成中发挥作用。IDH1催化位点的突变导致酶活性增强，可将α-KG转化为“致癌代谢物”D-2-羟基谷氨酸(2-HG) (PMID: 20171147)。2-HG通过抑制多种以α-KG为底物的酶的活性来促进肿瘤的发展，其中一些酶参与调控DNA去甲基化、组蛋白去甲基化、缺氧适应和胶原纤维成熟。
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KIT 原癌基因KIT编码3型跨膜受体酪氨酸激酶。该受体与其配体干细胞因子[SCF，也称为肥大细胞生长因子(MGF)] 结合后可通过二聚化和自磷酸化被激活(PMID: 9438854)。KIT激活后通过多种途径增加胞内信号传导，包括PI3K、MAPK和STAT途径，最终导致细胞增殖和存活(PMID: 22089421)。对于野生型胃肠道间质瘤(GIST；无KIT或PDGFRA突变)患者，NCCN指南推荐检测胚系琥珀酸脱氢酶(SDH)突变。约有10-15% GIST患者是野生型；因此，突变不存在并不能排除对GIST的诊断。在没有KIT突变的患者中，部分晚期GIST患者可从伊马替尼治疗中受益(0-45%的患者)(NCCN软组织肉瘤v.2.2017)。
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PDGFRA PDGFRA基因编码的蛋白产物是血小板源性生长因子(PDGFRA)。配体与包含免疫球蛋白(Ig)样结构域的PDGFRA胞外结构域结合后会引起二聚化和受体的自磷酸化，进而激活下游信号通路(如RAS-MAPK、PI3K和PLC-γ)，这些通路参与调控发育和细胞应答。PDGFRA的催化活性是通过脱离的胞内酪氨酸激酶结构域介导的。PDGFRA可结合除PDGF-DD以外的所有PDGF同工型配体(PMID: 24703957)。
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PDGFRB PDGFRB(血小板源性生长因子受体β)是一种酪氨酸激酶跨膜受体，其配体为同源二聚体PDGF-BB和PDGF-DD(PMID: 20581310)。与PDGF配体结合后，该受体可进行同源二聚化(或与PDGFRα异源二聚化)，使胞内激酶结构域邻近并触发激酶活性。下游信号传导途径包括JAK/STAT、PI3K/AKT、MAPK/ERK、PLCγ和NF-κB(PMID: 20581310)。PDGFRB主要在间充质来源的细胞(例如成纤维细胞，内皮细胞)上表达，并参与器官发育、血管生成和伤口修复(PMID: 20581310)。PDGFRB在造血细胞中的致病性过表达利于肿瘤的生长和进展。
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NF1 NF1基因编码一种GTP酶激活蛋白(GAP)，用于小GTP酶HRAS、KRAS和NRAS的激活(PMID: 1946382)。NF1蛋白与RAS结合时可稳定RAS蛋白的GTP酶活性，将RAS从与GTP结合的激活状态转换成与GDP结合的失活状态(PMID: 9302992)。GAP相关结构域(GRD)是NF1的催化结构域，它仅占NF1蛋白约10％，但直接负责其GAP活性。
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PTCH1 PTCH1基因编码一种跨膜蛋白，该蛋白是致癌性Hedgehog (HH)信号传导途径的组成部分。PTCH1是音猬因子(SHH)的主要受体，SHH是一种参与胚胎发育的分泌性蛋白(PMID: 8906787)。在没有配体的情况下，Hh受体Patched (PTCH1)通过抑制七次跨膜蛋白Smoothened (SMO)的活性来保持该通路关闭。当SMO处于失活状态时，GLI/Ci (glioblastoma/Cubitus interruptus)转录因子经蛋白酶解处理形成转录阻遏物，与Hh靶基因结合并阻止其转录。Hh与PTCH1的结合可抑制其活性，从而降低对SMO的抑制，促进完整的GLI/Ci形成转录激活因子(PMID: 27881449)。因此，PTCH1是一种典型的抑癌基因，抑制SMO介导的致癌信号途径。
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||||
RAF1 RAF1 (或CRAF)是三种RAF丝氨酸/苏氨酸激酶之一，在有丝分裂原激活蛋白激酶(MAPK)途径中发出信号(PMID: 17555829)。在细胞外刺激下，RAS介导的信号传导诱导形成CRAF同源二聚体或CRAF/BRAF异源二聚体，依次导致MEK和ERK的磷酸化，后两者是MAPK途径中的信号转导因子。激活的MAPK信号可调控多种细胞功能，例如增殖、分化和迁移(PMID: 21779496)。CRAF在体内广泛表达，尽管与ARAF和BRAF的功能部分重叠，但它对于多个组织保持正常的生理状态是必需的(PMID: 9767153)。
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||||
SMARCB1 SMARCB1(INI1, BAF47, SNF5)存在于所有已知的SWI/SNF染色质重塑复合物变体中，因此被认为是一个核心亚基(PMID: 10078207)。SWI/SNF复合物是一种ATP依赖的核小体重塑因子，对于基因的转录是必需的(PMID: 14964309)。SWI/SNF复合物对于人类的正常发育很重要，并且是细胞分化过程中转录程序转变所必需的(PMID: 23568486)。SMARCB1是一种强效的肿瘤抑制因子，突变小鼠模型已证明了在人类中观察到的SMARCB1肿瘤抑制功能(PMID: 16301525)。SMARCB1缺失导致肿瘤恶性转化的确切机制尚不清楚，然而基因表达研究表明，SMARCB1缺失的结果之一是激活与增殖和去分化相关的基因的表达(PMID: 21076395)。
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||||
EZH2 EZH2是多梳抑制复合体2(PRC2)的催化亚基，可催化组蛋白H3第27位赖氨酸(H3K27)二甲基和三甲基化进而抑制靶基因转录。EZH2需要与PRC2复合物的其他亚基(包括SUZ12和EED)共同作用发挥甲基转移酶活性(PMID: 15916951)，而PRC2的功能对于发育调节因子(例如HOX基因和X失活)的抑制作用非常重要(PMID: 12649488)。此外，非编码RNA可引导EZH2至基因组靶位点进行基因抑制(PMID: 22659877)。在许多恶性肿瘤，包括淋巴瘤、膀胱癌、黑素瘤、前列腺癌、肺癌和乳腺癌中已发现EZH2的过表达，与肿瘤晚期进展和不良预后相关(PMID: 24097870)。此外，EZH2的功能获得性突变在滤泡性淋巴瘤和弥漫性大B细胞淋巴瘤中频繁发生(PMID: 21190999)。EZH2还可以在某些类型的癌症中作为肿瘤抑制因子，在骨髓增生异常综合症(MDS)和骨髓增生性肿瘤(MPN)中可观察到EZH2的复发性失活突变(PMID: 20601953)。鉴于其在多种癌症类型中的重要作用，EZH2抑制剂在临床前研究中显露希望，当前多项临床试验成果或通过直接抑制EZH2酶促活性，或破坏PRC2稳定性来抑制EZH2活性(PMID: 26845405)。
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NTRK1 NTRK1(神经营养受体酪氨酸激酶1)蛋白是一种跨膜神经营养受体，存在于神经细胞上，并通过与其主要配体神经生长因子(NGF)的结合而被激活。NTRK1由胞外的配体结合结构域、跨膜结构域以及含酪氨酸激酶结构域的胞内区组成。NTRK1的致癌性激活可导致自磷酸化和MAP激酶、PI3-激酶和PLC-γ信号途径的激活，介导细胞增殖、存活和分化(PMID: 12652644)。NTRK1突变和融合存在于多种癌症中。NTRK1变异细胞的治疗策略包括广泛性的受体酪氨酸激酶抑制剂和特异性的NTRK激酶抑制剂。
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||||
NTRK2 NTRK2基因(神经营养受体酪氨酸激酶2)编码跨膜神经营养受体，参与的信号转导对于神经系统的正常发育至关重要(PMID: 8145823)。NTRK2由胞外的配体结合结构域、跨膜结构域以及含酪氨酸激酶结构域的胞内区组成。神经细胞上的NTRK2的配体包括神经生长因子(NGF)、脑源性神经营养因子(BDNF)和神经营养素3(NT-3)，通过与这三个配体的其中之一结合，NTRK2正常激活，并导致自磷酸化和下游信号通路的激活，通过MAPK、PI3K和PLC-γ信号途径控制和促进细胞增殖、存活和分化(PMID: 10851172)。
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||||
NTRK3 NTRK3(神经营养性受体酪氨酸激酶3)基因编码跨膜神经营养性受体，通常与其主要配体神经营养素3(NT-3)结合后在神经细胞上被激活。NTRK3由胞外的配体结合结构域、跨膜结构域以及含酪氨酸激酶结构域的胞内区组成。激活的NTRK3会依次导致自磷酸化和下游信号通路的激活，并通过MAPK、PI3K和PLC-γ信号途径控制和促进细胞增殖、存活和分化(PMID: 10851172)。
|
||||
KDR KDR (激酶结构域受体)，也被称为VEGFR2或Flk-1，是血管内皮生长因子(VEGF)的酪氨酸激酶受体，在血管生成中起关键作用。在缺氧条件下，低氧诱导因子1(HIF1)蛋白稳定化并导致KDR和VEGF的上调(PMID: 23172303)。VEGF与KDR的结合可导致受体二聚化和自磷酸化，刺激血管生成；通过蛋白激酶C (PKC)和RAF/MEK/ERK信号级联激活磷脂酶C (PLC-γ)和下游信号(PMID: 12778165)。
|
||||
DDR2 DDR2(盘状结构域受体2)是一种受体酪氨酸激酶，可介导多种下游信号通路。当受体的胞外盘状结构域与其内源性配体(胶原蛋白)结合时，DDR2胞内激酶结构域发生自磷酸化，导致几个下游信号通路(如MAPK和PI3K通路)的激活。这些通路的激活可促进细胞迁移、分化、增殖和存活(PMID: 16626936)。
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FGFR4 FGFR4是一种受体酪氨酸激酶，是成纤维细胞生长因子受体(FGFR)家族的成员。FGF配体与FGFR4的结合导致下游信号通路(包括PI3K/AKT和MAPK通路)的快速二聚化和激活(PMID: 10918587)。FGFR4在肝和肺组织中高表达，而FGFR4信号转导有助于多种细胞功能，包括增殖、分化和迁移(PMID: 10918587)。
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SMO Smoothened (SMO)是Hedgehog信号通路中一种保守的信号转导因子，在胚胎和神经元正常发育以及肿瘤发生中起着重要作用(PMID：26912893)。SMO是七次跨膜蛋白，与G蛋白偶联受体具有某些结构和功能相似性(PMID：23636324)。SMO活性通常通过未知的机制被Hedgehog通路的上游成分Patched (PTCH1)所抑制(PMID：23719536)。细胞外Hedgehog配体与PTCH1结合可导致SMO的连续激活，进而引起下游GLI转录因子的修饰，从而导致其激活。
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FLT3 FLT3是一种跨膜受体酪氨酸激酶，其主要作用为参与调控造血功能(PMID:12032772)。FLT3与其配体FLT3L结合后发生二聚化和自磷酸化而被激活。激活的FLT3通过多种途径激活下游信号传导，包括MAPK、PI3K/AKT和STAT3/5途径，这些途径在造血细胞增殖、分化和存活中发挥关键作用(PMID: 12951584)。野生型FLT3对于造血干细胞的生长和分化非常重要，并且通常在未成熟的骨髓和淋巴样细胞中表达(PMID: 12951584)。
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CDKN2B CDKN2B [周期蛋白依赖性激酶(CDK)抑制剂2B]，也称为p15或INK4B，是一种细胞周期蛋白依赖性激酶(CDK)抑制剂，有助于调节细胞周期。p15通过阻止CDK4和CDK6与细胞周期蛋白的结合进而抑制CDK4和CDK6活性。这会激活视网膜母细胞瘤蛋白(Rb)家族蛋白，从而阻止细胞周期从G1到S期的过渡，并导致细胞周期阻滞(PMID: 9031081)。还有研究表明，CDKN2B表达可调控TGFβ介导的细胞周期阻滞(PMID: 8078588)。CDKN2B的胚系突变可能导致易罹患肾细胞癌(PMID: 25873077)。CDKN2B缺失的小鼠模型中肿瘤发生进展，这与其作为抑癌基因的作用一致(PMID: 14681685)，并且在各种肿瘤中CDKN2B基因经常发生缺失、超甲基化或突变(PMID: 9479825)。
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AKT2 AKT2蛋白是一种丝氨酸/苏氨酸蛋白激酶，是PI3K信号传导途径中的关键下游效应蛋白。AKT2以及与之紧密相关的AKT1和AKT3都是AGC激酶家族的成员。AKT激活的作用包括细胞周期进展和促进迁移、分化和葡萄糖稳态(PMID: 12094235)。当AKT2的pleckstrin同源结构域(PHD)从激酶结构域(KD)移出并定位到细胞膜上，且其中几个关键残基被磷酸化时，AKT2被激活(PMID: 9374542)。
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AKT3 AKT3蛋白是一种丝氨酸/苏氨酸蛋白激酶，是PI3K信号传导途径中的关键下游效应蛋白。AKT3以及与之紧密相关的AKT1和AKT2都是AGC激酶家族的成员。AKT激活的作用包括细胞周期进展和促进迁移、分化和葡萄糖稳态(PMID: 12094235)。当AKT3的pleckstrin同源结构域(PHD)从激酶结构域(KD)移出并定位到细胞膜上，且其中几个关键残基被磷酸化时，AKT3被激活(PMID: 12094235)。
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APC APC是促癌性WNT/β-连环蛋白信号通路的负调控因子(PMID: 8259519)。APC对肿瘤的主要抑制作用是调节细胞内β-连环蛋白的水平(PMID：11978510)。APC是一种破坏性复合物的重要成员，该复合物靶向胞质β-连环蛋白进行泛素化和降解(PMID: 10984057)。当APC活性丧失时，WNT通路激活异常增加，通常引起细胞增生并最终导致肿瘤进展(PMID: 8259511)。抑制肿瘤形成需要一个APC表达的阈值，并且该蛋白水平在人体内非常平衡(PMID: 11743581)。
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BCL2L11 BCL2L11 (亦称BIM)是一种促凋亡的肿瘤抑制因子，是BCL2蛋白家族的成员(PMID: 9430630)。BCL2L11表达后通过触发线粒体细胞色素c的释放来激活细胞凋亡。细胞色素c释放会引发一系列下游事件，导致凋亡小体的形成以及激活半胱天冬酶介导的细胞凋亡(PMID: 16243507)。抗凋亡蛋白BCL2可螯合BCL2L11；因此，BCL2L11和BCL2的相对水平可调控许多细胞进程，包括细胞存活和组织稳态(PMID: 25176652)。BIM蛋白有几种选择性剪接的BIM亚型，具有不同水平的促凋亡活性(PMID: 22728771)。
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BTK BTK (Bruton酪氨酸蛋白激酶)是一种细胞质酪氨酸激酶，在B细胞活化中起着重要作用。当BCR相关酪氨酸激酶(如SYK和LYN)在质膜上磷酸化BTK时，B细胞受体(BCR)会激活BTK (PMID: 29861875)。BTK磷酸化的主要目标是磷脂酶C-γ2 (PLCγ2)，该酶磷酸化会导致下游信号途径的激活，包括NFAT、NFkB和MAPK途径(PMID: 10811867)。BTK信号传导还涉及淋巴细胞运输中的趋化因子受体信号传导和免疫应答中的Toll样受体信号传导(PMID: 23967355)。BTK的功能丧失性突变可导致X性连锁无丙种球蛋白血症(XLA)，这种疾病导致骨髓中的前B细胞无法分化为成熟的循环B细胞(PMID: 8380905)。虽然BTK的体细胞突变并不常见，但BTK信号对于B细胞源性恶性肿瘤的生长至关重要，如慢性淋巴细胞性白血病(CLL)、套细胞淋巴瘤(MCL)、弥漫性大B细胞淋巴瘤(DLBCL)、多发性骨髓瘤(MM)和Waldenstrom巨球蛋白血症(WM)(PMID: 24658273)。
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CSF1R CSF1R是一种膜蛋白，可作为集落刺激因子1(CSF1)的受体，集落刺激因子1调控巨噬细胞的产生、分化和功能。CSF1R介导的信号传导是先天免疫的重要调控者。CSF1R和配体CSF1的共表达可导致肿瘤细胞的致癌活性，而与CSF1R的过度表达或扩增无关，这表明CSF1R是一种致癌基因(PMID：22096574)。然而，CSF1R的功能丧失性突变和剪接体变异也与骨髓恶性肿瘤的易感性相关(PMID：18971950)。
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FBXW7 FBXW7基因编码一个F-box蛋白亚基，该亚基参与SCF (Skp1-Cul1-F-box蛋白)型泛素连接酶复合物的底物识别。识别底物后，该复合物会对底物进行修饰，使其成为蛋白质降解的靶点。FBXW7的底物包括c-MYC、mTOR (PMID: 18787170)、NOTCH1、cyclin-E和JUN蛋白，它们在调控细胞分裂、分化和生长中发挥重要作用，并且经常在癌症中被不适当地激活。由于大多数FBXW7底物是由原癌基因编码的蛋白，且会被SCF复合物降解，因此FBXW7起到抑癌作用。
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IDH2 IDH2(异柠檬酸脱氢酶2)是一种在三羧酸(TCA)循环中催化异柠檬酸氧化脱羧为α-酮戊二酸(α-KG)的酶。IDH2在线粒体中表达，利用NADP(+)作为电子受体，在线粒体中通过TCA循环在细胞代谢和能量产生中发挥作用。IDH2催化位点上与肿瘤相关的突变会赋予新型酶更强的活性，使突变酶将α-KG转化为“癌代谢物”D-2-羟基戊二酸(2-HG) (PMID：20171147)。2-HG可抑制多种以α-KG为底物的酶的活性，其中一些酶参与调控DNA去甲基化、组蛋白去甲基化、缺氧适应和胶原纤维成熟，以此来促进肿瘤的发展(PMID：23630074)。
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MLH1 MLH1是一种DNA错配修复蛋白。MLH1以DNA亲本链为模板，纠正错配的核苷酸和插入/缺失环，它们在复制过程中错误地插入到新合成的DNA链中。作为DNA错配修复通路的一部分，MLH1最常与PMS2 (其他包括PMS1或MLH3)异源二聚化形成核酸内切酶复合体，切开受损链，导致其局部切除(PMID: 10615123)。MLH1突变会导致无法正确修复错配和插入/缺失环，这通常与微卫星重复序列相关。MLH1失活突变的肿瘤可能表现出微卫星高度不稳定表型(PMID: 12454837)。
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MSH2 MSH2(MutS蛋白同源物2)蛋白是参与错配修复过程的肿瘤抑制因子。MSH2与其他MutS蛋白MSH6和MSH3异二聚体化，分别形成MutS-α和MutS-β错配修复(MMR)复合物(PMID: 7973733)。这两种复合物都参与识别错配碱基对，形成DNA-MutS复合物，该复合物向MMR途径其他组件发出信号以切除异常核苷酸。MSH2和其它MMR基因是遗传性非息肉性结肠直肠癌(HNPCC，也称为Lynch综合征)最显著的易感基因(PMID: 1648437)。胚系和体细胞环境的功能丧失性突变或表观遗传沉默会导致细胞的突变率增加，进而驱动致癌和微卫星不稳定(MSI)。
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MSH6 MSH6(MutS蛋白同源物6)基因编码DNA错配修复蛋白MSH6。MSH6是一种肿瘤抑制因子，可与MSH2异源二聚化形成MutS-α复合物。该复合物识别单碱基对错配和二核苷酸插入-缺失环，进而启动错配修复(MMR)进程(PMID: 8816473)。MSH6和其它MMR基因是遗传性非息肉性结肠直肠癌(HNPCC，也称为Lynch综合征)最显著的易感基因(PMID: 1648437)。胚系和体细胞环境的功能丧失性突变或表观遗传沉默会导致细胞的突变率增加，进而驱动致癌和微卫星不稳定(MSI)。
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PMS2 PMS2是一种核酸内切酶，在错配修复(MMR)途径中起着至关重要的作用。具体来说，PMS2可切入DNA以启动错配链的切除(PMID: 20624957)。PMS2突变可导致无法正确修复DNA中的错配和插入/缺失环，从而导致肿瘤超突变增加和微卫星高度不稳定(MSI-H)表型(PMID: 14871975)。PMS2的胚系突变可引发Lynch综合征，该综合征患者易罹患某些癌症，包括结肠癌、子宫内膜癌和卵巢癌，这些结果表明PMS2是一种肿瘤抑制因子(PMID: 16472587)。
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NF2 NF2，也称为Merlin，是一种膜细胞骨架连接蛋白，主要表达于神经组织(PMID: 25893302)。NF2在肌动蛋白跨膜受体和细胞内效应子的间接联系中发挥重要作用，以此对控制细胞增殖和存活的信号通路进行调节。这些通路包括受体酪氨酸激酶(RTKs)下游信号途径、细胞粘附、小GTP酶、mTOR、PI3K/Akt和Hippo信号通路(PMID: 20491622)。NF2是一种肿瘤抑制因子。
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NRG1 NRG1是一种细胞粘附蛋白，是神经调节蛋白家族的成员(PMID: 25501131)。NRG1基因可编码六种具有不同N末端结构域的蛋白质，以及至少31种均包含EGF结合域的不同亚型(PMID: 11042203)。NRG1生长因子主要合成为膜结合蛋白，并被裂解释放到细胞外。然而，III型NRG1亚型具有跨膜和胞内活性(PMID: 9789034)。NRG1可作为ERBB受体酪氨酸激酶的配体，与ERBB3和ERBB4特异性结合(PMID: 17250808)。NRG1通过与EGF结构域结合启动ERBB的二聚化，从而导致下游信号通路(包括MAPK和PI3K通路)的激活(PMID: 25501131)。NRG1介导的信号通路可调节多种细胞功能，包括神经元存活、迁移、分化和细胞增殖等(PMID: 25501131)。不同NRG1蛋白的表达和加工呈现高度细胞特异性，从而导致特异性细胞程序激活(PMID: 24237343)。
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MYCN MYCN是一种MYC家族转录因子，与常见的扩增转录因子c-MYC(由MYC基因编码)具有高度同源性(PMID: 20399964)。MYCN已被证明既可以作为转录激活因子，又可以作为阻遏蛋白，调控参与细胞周期、增殖、凋亡、代谢和肿瘤微环境调节等进程相关基因的表达(PMID: 20399964)。MYCN基因编码的蛋白质由一个N端转录激活域和一个C端碱性螺旋-环-螺旋-亮氨酸拉链DNA结合域组成。与全身广泛表达的c-MYC不同，n-MYC在时间上仅限于胚胎发育期表达，空间上仅在神经系统、肾脏、肺和脾脏细胞中表达。
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TP53 TP53编码p53肿瘤抑制蛋白，这是一种转录因子，通过诱导下游抗肿瘤反应，如DNA损伤修复和凋亡，对细胞应激(包括DNA损伤和致癌性激活)产生应答(PMID: 11099028)。p53蛋白由一个N末端反式激活结构域，一个中心DNA结合结构域、一个寡聚结构域，以及一个C末端调节结构域组成(PMID: 22713868)。
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CTNNB1 CTNNB1 [又称为β-连环蛋白(β-catenin)]是一种转录激活因子，参与调控WNT信号通路(PMID: 22617422)。在没有WNT信号时，β-catenin在细胞质中与APC/AXIN破坏复合物相互作用而被降解。该破坏复合物中包含GSK3β，是一种负责磷酸化β-catenin关键残基并靶向β-catenin降解的激酶。WNT配体与受体的结合可导致APC/AXIN破坏复合物降解，使得β-catenin能够释放并定位于细胞核内，随后通过与TCF/LEF家族的转录因子相互作用介导靶基因的激活。β-catenin/TCF的重要转录靶点包括细胞周期蛋白D1和MYC基因(PMID: 9727977)。β-catenin还可以影响细胞间粘附和细胞迁移(PMID: 15001769)。CTNNB1的体细胞功能获得性突变可导致β-catenin的异常累积(PMID: 23636398)。
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VHL VHL编码一种E3连接酶，主要起抑癌作用(PMID: 9671762)。VHL蛋白与转录延伸因子B和C形成三元复合物，这对于VHL的稳定和活性至关重要(PMID: 25533676)。破坏该复合物的VHL突变会导致不稳定的VHL蛋白生成并异常降解(PMID: 7660122)。在正常供氧条件下，VHL在缺氧诱导因子(HIF)的调控中起着至关重要的作用。VHL结合HIF蛋白，并通过蛋白酶体靶向它们进行泛素化降解(PMID: 10878807)。HIF负责响应低氧条件下众多基因的转录，包括促血管生成因子，例如血管内皮生长因子(VEGF)(PMID: 25533676)。VHL缺失可导致HIF下游靶基因的激活，并能在常氧条件下促进肿瘤发生(PMID: 21386872)。
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||||
MPL MPL原癌基因编码促血小板生成素受体。该基因最早是在鼠转导的骨髓增生性白血病病毒中鉴定出致癌基因v-mpl，该病毒可转化小鼠骨髓中的造血细胞(PMID: 7836743)。正常的受体蛋白在巨核细胞生长和调节以及血小板生成中起关键作用(PMID: 8202154)。该基因编码的跨膜蛋白由胞外的细胞因子结合域和胞内的细胞因子信号传导域组成。与其配体血小板生成素(TPO)的结合会导致受体二聚化和酪氨酸激酶JAK家族的激活，进而导致STAT转录因子家族的激活(PMID: 7796811)。MAPK途径也可因该受体激活而被激活(PMID: 10438715)。
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MYD88 MYD88基因编码一种信号转导衔接蛋白——髓样分化初反应蛋白88。它的功能是转导来自Toll样受体和的白介素-1受体的信号，后者对于固有免疫非常重要(PMID: 11544529)。MYD88转导的信号可激活NFkB途径(PMID: 9734363)。携带MYD88功能丧失性突变的患者由于免疫功能紊乱更容易受到细菌感染(PMID: 18669862)。
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SMAD4 SMAD4是一种转录因子，在转化生长因子β(TGFß)信号途径中发挥关键作用。TGFß信号控制多种生物进程，包括细胞增殖、分化和组织稳态(PMID: 11057902)。与TGFβ超家族的细胞因子(如TGFβ1、TGFβ2、TGFβ3、活化素和nodal)结合后，SMAD受体调控的信号分子(如SMAD2和SMAD3)被膜受体丝氨酸激酶激活(PMID: 9759503)。在TGFβ受体二聚化并激活后，两种磷酸化受体调节的SMAD蛋白与SMAD4形成三聚体复合物，从而可以与DNA结合(PMID: 9759503)。SMAD三聚体复合物以依赖于细胞类型的方式转运至细胞核并调控TGFβ介导的基因转录，这种方式部分取决于转录辅激活因子的可用性和染色质开放性(PMID: 9759503)。TGFβ依赖性转录的上下游特征使得TGFβ途径能够抑制癌变前的肿瘤发生，以及促进肿瘤进展期间的侵袭性和转移(PMID: 20495575)。
|
||||
GNA11 GNA11是异三聚体鸟嘌呤核苷酸结合蛋白(G蛋白)的α亚基(PMID: 28223438)。由α，β和γ亚基组成的G蛋白是一种细胞内信号蛋白，在跨膜G蛋白偶联受体(GPCR)激活后会启动信号级联反应(PMID: 23640210)。GPCR激活后，结合GDP的GNA11 (一种Gαq蛋白)将GDP转化为GTP，并通过结合磷脂酶Cβ (PLCB4)激活下游信号传导(PMID: 28223438)。PLCB4激活PIP2裂解，导致第二信使蛋白二酰基甘油(DAG)和三磷酸肌醇(IP3)激活以促使钙的释放(PMID: 27089179)。GNA11介导的信号传导促进多种下游途径的激活，包括PKC、MAPK和PI3K信号传导，这些途径介导某些细胞进程，例如增殖和分化(PMID: 23177739)。GNA11变异会抑制该蛋白的GTP酶活性，从而使GNA11保持与GTP的结合，处于组成型激活状态(PMID: 21083380)。
|
||||
GNAQ GNAQ是异三聚体鸟嘌呤核苷酸结合蛋白(G蛋白)的α亚基(PMID: 28223438)。由α，β和γ亚基组成的G蛋白是一种细胞内信号蛋白，在跨膜G蛋白偶联受体(GPCR)激活后会启动信号级联反应(PMID: 23640210)。GPCR激活后，结合GDP的GNAQ (一种Gαq蛋白)将GDP转化为GTP，并通过结合磷脂酶Cβ (PLCB4)激活下游信号传导(PMID: 28223438)。PLCB4激活PIP2裂解，导致第二信使蛋白二酰基甘油(DAG)和三磷酸肌醇(IP3)激活以促使钙的释放(PMID: 27089179)。GNAQ介导的信号传导促进多种下游途径的激活，包括PKC、MAPK和PI3K信号传导，这些途径介导某些细胞进程，例如增殖和分化(PMID: 23177739)。GNAQ变异会抑制该蛋白的GTP酶活性，从而使GNA11保持与GTP的结合，处于组成型激活状态(PMID: 21083380)。
|
||||
TERT TERT基因编码端粒酶的催化亚基，端粒酶负责保持端粒的长度及基因组的完整性。在体细胞中TERT低表达或不表达。然而，端粒酶活性在绝大多数肿瘤中上调，这可能有助于癌细胞的永生(PMID: 9282118)。目前已在多种肿瘤中发现TERT启动子区突变，包括黑色素瘤、肝细胞癌、尿路上皮癌、成神经管细胞瘤和胶质瘤(PMID: 23530248)。
|
||||
MDM2 MDM2编码RING结构域蛋白，其功能为核定位的E3泛素连接酶，受p53转录调控。相反，MDM2通过多种机制对p53进行负调节，从而创建一个自动调节负反馈回路。MDM2可以单泛素化或多泛素化p53，具体取决于MDM2活性水平。高MDM2活性促进多泛素化导致p53降解，而低MDM2活性诱导单泛素化和随后的p53核输出。MDM2可以通过其N端p53结合域直接与p53结合，抑制p53的转录活性（PMID: 23303139;PMID: 24389645）。MDM2通过靶向肿瘤抑制蛋白降解蛋白酶体来发挥其致癌潜力。MDM2基因扩增或MDM2表达改变存在于许多肿瘤中，在野生型p53肿瘤中更为常见，表明MDM2主要通过介导p53泛素化来发挥其致癌活性，导致蛋白酶体降解，从而抑制p53肿瘤抑制蛋白的功能（PMID: 23303139;PMID: 24389645）。MDM2既可以单独抑制p53，也可以与多个其他伴侣形成异源二聚体从而导致基因表达改变和基因组不稳定。例如，MDMX的RING结构和MDM2形成异二聚体结构产生有效的p53 E3泛素连接酶复合物，从而进一步抑制p53活性。MDM2普遍存在于许多其他靶点，例如雌激素受体和雄激素受体，这导致激素应答基因表达的改变。此外，MDM2促进视网膜母细胞瘤RB1肿瘤抑制蛋白的降解（PMID: 23303139;PMID: 24389645）。
|
||||
BCR BCR是一种信号分子，在慢性粒细胞白血病和其他造血系统恶性肿瘤中，由于染色体重排而反复发生突变。BCR是具有丝/苏氨酸激酶活性的信号分子(PMID: 23940119).据报道，BCR既可以作为鸟嘌呤核苷酸交换因子( GEF )，促进Rho A家族GTP酶的激活( PMID：23940119 )，也可以作为GTP酶激活蛋白( GAP )，通过刺激小GTP结合蛋白Rac1、Rac2和Cdc42的活性而使GTP酶失活( PMID：7889565 )。然而，小鼠BCR的缺失会导致正常的发育；由于活性氧代谢物生成增加，小鼠出现中性粒细胞扩张( PMID：7889565 )。BCR还充当信号传导的介质，具有模块化结构域，可作为GRB2、GRB10、14 - 3 - 3和ABL蛋白的结合位点( PMID：15719031 )。BCR最常作为BCR - ABL1融合蛋白(或费城染色体)的易位伴侣进行研究，从而导致组成型活性激酶。BCR - ABL1融合蛋白几乎存在于所有慢性髓系白血病( CML )和一小部分急性淋巴细胞白血病( ALL )和急性髓系白血病( AML )患者中。BCR - ABL1结合信号分子，包括SOS和GRB2，并启动下游信号通路，包括PI3K / AKT和RAS / MAPK通路( PMID：15719031 )。BCR - ABL1易位的肿瘤对激酶抑制剂伊马替尼敏感，第二代激酶抑制剂已被证实可靶向伊马替尼产生的耐药机制( PMID：17457302 )。
|
||||
CCNE1 CCNE1是细胞周期的调节因子，在多种癌症类型中被扩增。由该基因编码的蛋白质属于高度保守的细胞周期蛋白家族，其成员的特点是在整个细胞周期中蛋白质丰度具有显着的周期性。细胞周期蛋白作为 CDK 激酶的调节剂发挥作用。不同的细胞周期蛋白表现出不同的表达和降解模式，这有助于每个有丝分裂事件的时间协调。该细胞周期蛋白与 CDK2 的调节亚基形成复合物并发挥作用，CDK2 的活性是细胞周期 G1/S 转换所必需的。这种蛋白质在 G1-S 期边界积累，并随着细胞通过 S 期而降解。已在许多肿瘤中观察到该基因的过度表达，这会导致染色体不稳定，从而可能导致肿瘤发生。该蛋白被发现与 NPAT 蛋白 (映射到 ATM 基因座的核蛋白) 的磷酸化有关，并参与其中，NPAT 蛋白参与细胞周期调节的组蛋白基因表达，并在促进细胞周期进程中发挥关键作用没有 pRB。
|
||||
CSF3R CSF3R编码的蛋白质是集落刺激因子 3 的受体，集落刺激因子 3 是一种控制粒细胞产生、分化和功能的细胞因子。编码的蛋白质是细胞因子受体家族的一员，也可能在某些细胞表面粘附或识别过程中发挥作用。已经描述了选择性剪接的转录物变体。该基因的突变是导致科斯特曼综合征 (也称为严重先天性中性粒细胞减少症) 的原因。[RefSeq 提供，2010 年 8 月]
|
||||
CXCR4 CXCR4编码的蛋白具有多种功能，包括趋化因子受体活性；细胞骨架蛋白结合活性；和泛素蛋白连接酶结合活性。参与髓鞘维护；冷诱导产热的正调节；和少突胶质细胞分化的正调节。作用于多个过程的上游或内部，包括循环系统发育；配子世代；和神经系统发育。位于细胞间连接处；质膜的外侧；和生长锥。以多种结构表达，包括消化系统；心血管系统;胚胎间充质；胚外成分；和神经系统。用于研究 WHIM 综合症。该基因的人类直系同源物与 WHIM 综合征有关；血液系统癌症（多发性）；白细胞减少症;骨质疏松症；和胰腺癌。与人 CXCR4（CXC 基序趋化因子受体 4）同源。 [由基因组资源联盟提供，2022 年 4 月]
|
||||
PPP2R2A PPP2R2A的产物属于磷酸酶 2 调节亚基 B 家族。蛋白磷酸酶 2 是四种主要的 Ser/Thr 磷酸酶之一，与细胞生长和分裂的负调控有关。它由一个共同的异聚核心酶组成，该核心酶由一个催化亚基和一个恒定的调节亚基组成，与多种调节亚基相关联。 B 调节亚基可能调节底物选择性和催化活性。该基因编码调节亚基 B55 亚家族的 alpha 异构体。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2010 年 4 月
|
||||
TGFBR1 TGFBR1编码转化生长因子 β (TGF-β) 受体蛋白家族的成员。这些蛋白质包含 TGF-β 信号转导通路的一个组成部分，该通路将细胞外信号转导为基因表达变化，以调节广泛的细胞反应，包括增殖、迁移、分化和凋亡。该基因的纯合基因敲除小鼠表现出受损的血管生成和胚胎致死率。可变剪接导致多个转录本变体。 [RefSeq 提供，2015 年 8 月]
|
||||
TMPRSS2 TMPRSS2编码属于丝氨酸蛋白酶家族的蛋白质。编码的蛋白质包含 II 型跨膜结构域、A 类受体结构域、清道夫受体富含半胱氨酸结构域和蛋白酶结构域。已知丝氨酸蛋白酶参与许多生理和病理过程。该基因被证明在前列腺癌细胞中被雄激素上调，在雄激素非依赖性前列腺癌组织中被下调。这种蛋白质的蛋白酶结构域被认为在自动切割后被切割并分泌到细胞培养基中。这种蛋白质还通过蛋白水解切割和激活病毒包膜糖蛋白来促进病毒进入宿主细胞。被发现使用这种蛋白质进入细胞的病毒包括流感病毒和人类冠状病毒 HCoV-229E、MERS-CoV、SARS-CoV 和 SARS-CoV-2 (COVID-19 病毒) 。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2020 年 4 月]
|
||||
MYC MYC是一种原癌基因，编码一种核磷蛋白，在细胞周期进程、细胞凋亡和细胞转化中起作用。编码的蛋白与相关转录因子MAX形成异源二聚体。该复合物与基因启动子上的E盒（E-box）结合并启动相应基因的转录。在许多人类癌症中经常观察到该基因的扩增。涉及该基因的易位与人类患者的Burkitt淋巴瘤和多发性骨髓瘤有关。有证据表明，翻译从上游的、框内的非AUG ( CUG )和下游的AUG起始位点开始，导致产生两种具有不同N末端的异构体。[ RefSeq提供, 2017年8月]
|
||||
CBL CBL是编码E3泛素连接酶的原癌基因。编码的蛋白质是蛋白酶体降解靶向底物所需的酶之一。这种蛋白质介导泛素从泛素结合酶 (E2) 转移到特定底物。该蛋白质还包含一个 N 端磷酸酪氨酸结合结构域，使其能够与许多酪氨酸磷酸化底物相互作用并靶向它们进行蛋白酶体降解。因此，它作为许多信号转导通路的负调节剂发挥作用。已发现该基因在许多癌症中发生突变或易位，包括急性髓性白血病，并且 5' UTR 中 CGG 重复序列的扩增与 Jacobsen 综合征有关。该基因的突变也是努南综合征样疾病的原因。[RefSeq 提供，2016 年 7 月]
|
||||
PIK3CB PIK3CB编码的蛋白可启动 1-磷脂酰肌醇-3-激酶活性。参与磷脂酰肌醇磷酸盐的生物合成过程。位于刷状缘膜。磷脂酰肌醇 3-激酶复合物的一部分。用于研究血栓形成。该基因的人类直系同源物与胶质母细胞瘤有关；前列腺癌；前列腺癌;和 2 型糖尿病。与人 PIK3CB（磷脂酰肌醇 4,5-二磷酸 3-激酶催化亚基 β）同源。 [由基因组资源联盟提供，2022 年 4 月]
|
||||
|
|
@ -0,0 +1,688 @@
|
|||
Gene Isoform RefSeq
|
||||
LRP1B ENST00000389484.8 NM_018557.3
|
||||
FANCE ENST00000229769.3 NM_021922.3
|
||||
FANCI ENST00000310775.12 NM_001113378.2
|
||||
ERCC1 ENST00000300853.8 NM_001983.4
|
||||
FANCM ENST00000267430.10 NM_020937.4
|
||||
LYN ENST00000519728 NM_002350.3
|
||||
SH2D1A ENST00000371139 NM_002351.4
|
||||
EPCAM ENST00000263735 NM_002354.2
|
||||
EP300 ENST00000263253 NM_001429.3
|
||||
CRBN ENST00000231948 NM_016302.3
|
||||
H3C14 ENST00000369158 NM_021059.2
|
||||
EPAS1 ENST00000263734 NM_001430.4
|
||||
SMAD2 ENST00000262160 NM_001003652.3
|
||||
SMAD3 ENST00000327367 NM_005902.3
|
||||
SMAD4 ENST00000342988 NM_005359.5
|
||||
EPHA3 ENST00000336596 NM_005233.5
|
||||
EPHA5 ENST00000273854 NM_004439.5
|
||||
EPHA7 ENST00000369303 NM_004440.3
|
||||
MAF ENST00000393350 NM_001031804.2
|
||||
FBXW7 ENST00000281708 NM_033632.3
|
||||
EPHB1 ENST00000398015 NM_004441.4
|
||||
EPOR ENST00000222139 NM_000121.3
|
||||
NCOA3 ENST00000371998 NM_181659.2
|
||||
ERBB2 ENST00000269571 NM_004448.2
|
||||
ERBB3 ENST00000267101 NM_001982.3
|
||||
ERBB4 ENST00000342788 NM_005235.2
|
||||
ERCC2 ENST00000391945 NM_000400.3
|
||||
BRIP1 ENST00000259008 NM_032043.2
|
||||
ERCC3 ENST00000285398 NM_000122.1
|
||||
AMER1 ENST00000330258 NM_152424.3
|
||||
LZTR1 ENST00000215739 NM_006767.3
|
||||
ERCC4 ENST00000311895 NM_005236.2
|
||||
ABL1 ENST00000318560 NM_005157.4
|
||||
ERCC5 ENST00000355739 NM_000123.3
|
||||
ABL2 ENST00000502732 NM_007314.3
|
||||
ERF ENST00000222329 NM_006494.2
|
||||
ERG ENST00000288319 NM_182918.3
|
||||
STAG1 ENST00000383202 NM_005862.2
|
||||
ZRSR2 ENST00000307771 NM_005089.3
|
||||
SETD6 ENST00000219315 NM_001160305.1
|
||||
RBM10 ENST00000329236 NM_001204468.1
|
||||
KDM5C ENST00000375401 NM_004187.3
|
||||
ESR1 ENST00000206249 NM_001122740.1
|
||||
SMC1A ENST00000322213 NM_006306.3
|
||||
MAX ENST00000358664 NM_002382.4
|
||||
RPS6KB2 ENST00000312629 NM_003952.2
|
||||
ETV1 ENST00000405192 NM_001163147.1
|
||||
ETV4 ENST00000319349 NM_001079675.2
|
||||
ETV5 ENST00000306376 NM_004454.2
|
||||
ACTG1 ENST00000331925 NM_001199954.1
|
||||
ETV6 ENST00000396373 NM_001987.4
|
||||
MECOM ENST00000468789 NM_001105078.3
|
||||
MCL1 ENST00000369026 NM_021960.4
|
||||
KLF3 ENST00000261438 NM_016531.5
|
||||
IKZF1 ENST00000331340 ENST00000331340
|
||||
EWSR1 ENST00000397938 NM_005243.3
|
||||
ACVR1 ENST00000263640 NM_001111067.2
|
||||
RRAS ENST00000246792 NM_006270.3
|
||||
EZH1 ENST00000428826 NM_001991.3
|
||||
ARID1A ENST00000324856 NM_006015.4
|
||||
MDM2 ENST00000462284 NM_002392.5
|
||||
EZH2 ENST00000320356 NM_004456.4
|
||||
MBD6 ENST00000355673 NM_052897.3
|
||||
MDM4 ENST00000367182 NM_002393.4
|
||||
H3-4 ENST00000366696 NM_003493.2
|
||||
HIST2H3A ENST00000331491 NM_001005464.2
|
||||
RXRA ENST00000481739 NM_002957.4
|
||||
MEF2D ENST00000348159 NM_005920.3
|
||||
MAP3K1 ENST00000399503 NM_005921.1
|
||||
AXIN1 ENST00000262320 NM_003502.3
|
||||
AXIN2 ENST00000307078 NM_004655.3
|
||||
BAP1 ENST00000460680 NM_004656.3
|
||||
MEN1 ENST00000312049 NM_130799
|
||||
KLF2 ENST00000248071 NM_016270.2
|
||||
FANCA ENST00000389301 NM_000135.2
|
||||
FANCC ENST00000289081 NM_000136.2
|
||||
FANCD2 ENST00000383807 NM_001018115.1
|
||||
MET ENST00000397752 NM_000245.2
|
||||
HIST1H2AL ENST00000357320 NM_003511
|
||||
HIST1H2AC ENST00000314088 NM_003512.3
|
||||
PARP1 ENST00000366794 NM_001618.3
|
||||
HIST1H2AM ENST00000359611 NM_003514
|
||||
HIST1H2BG ENST00000244601 NM_003518
|
||||
FAT1 ENST00000441802 NM_005245.3
|
||||
ARID1B ENST00000346085 NM_020732.3
|
||||
HIST1H2BC ENST00000314332 NM_003518.3
|
||||
HIST1H2BO ENST00000616182 NM_003527.4
|
||||
H3C1 ENST00000357647 NM_003529.2
|
||||
H3C4 ENST00000356476 NM_003530.4
|
||||
H3C3 ENST00000540144 NM_003531.2
|
||||
H3C6 ENST00000360408 NM_003532.2
|
||||
H3C11 ENST00000328488 NM_003533.2
|
||||
H3C8 ENST00000305910 NM_003534.2
|
||||
H3C12 ENST00000359303 NM_003535.2
|
||||
H3C10 ENST00000369163 NM_003536.2
|
||||
CIITA ENST00000324288
|
||||
ZNRF3 ENST00000544604 NM_001206998.1
|
||||
UBR5 ENST00000520539 NM_015902.5
|
||||
H3C2 ENST00000244661 NM_003537.3
|
||||
ATXN2 ENST00000377617 NM_002973.3
|
||||
ATXN7 ENST00000295900 NM_000333.3
|
||||
ABRAXAS1 ENST00000321945 NM_139076.2
|
||||
SERPINB3 ENST00000283752 NM_006919.2
|
||||
YAP1 ENST00000282441 NM_001130145.2
|
||||
SERPINB4 ENST00000341074 NM_002974.3
|
||||
RPTOR ENST00000306801 NM_020761.2
|
||||
APLNR ENST00000257254 NM_005161.4
|
||||
MITF ENST00000394351 NM_000248
|
||||
ARID5B ENST00000279873 NM_032199.2
|
||||
MLH1 ENST00000231790 NM_000249.3
|
||||
FGF3 ENST00000334134 NM_005247.2
|
||||
KMT2A ENST00000534358 NM_001197104.1
|
||||
FGF4 ENST00000168712 NM_002007.2
|
||||
MLLT1 ENST00000252674 NM_005934.3
|
||||
ETNK1 ENST00000266517 NM_018638.4
|
||||
AKT1 ENST00000349310 NM_001014431.1
|
||||
AKT2 ENST00000392038 NM_001626.4
|
||||
FGFR1 ENST00000425967 NM_001174067.1
|
||||
FGFR3 ENST00000260795 NM_000142.4
|
||||
SPOP ENST00000347630 NM_001007228.1
|
||||
ALB ENST00000295897 NM_000477.5
|
||||
FGFR2 ENST00000358487 NM_000141.4
|
||||
FGFR4 ENST00000292408 NM_213647.1
|
||||
MAD2L2 ENST00000235310 NM_001127325.1
|
||||
FH ENST00000366560 NM_000143.3
|
||||
SETD3 ENST00000331768 NM_032233.2
|
||||
DDX41 ENST00000507955 NM_016222.2
|
||||
ALK ENST00000389048 NM_004304.4
|
||||
HOXB13 ENST00000290295 NM_006361.5
|
||||
ALOX12B ENST00000319144 NM_001139.2
|
||||
SDHA ENST00000264932 NM_004168.2
|
||||
RAD54L ENST00000371975 NM_001142548.1
|
||||
SDHB ENST00000375499 NM_003000.2
|
||||
FOXF1 ENST00000262426 NM_001451.2
|
||||
SDHC ENST00000367975 NM_003001.3
|
||||
SDHD ENST00000375549 NM_003002.3
|
||||
MPL ENST00000372470 NM_005373.2
|
||||
CARM1 ENST00000327064 NM_199141.1
|
||||
CUL3 ENST00000264414 NM_003590.4
|
||||
FOXO1 ENST00000379561 NM_002015.3
|
||||
TRAF7 ENST00000326181 NM_032271.2
|
||||
FLI1 ENST00000527786 NM_002017.4
|
||||
MRE11 ENST00000323929 NM_005591.3
|
||||
MAP2K4 ENST00000353533 NM_003010.3
|
||||
RRAS2 ENST00000256196 NM_012250.5
|
||||
FLT1 ENST00000282397 NM_002019.4
|
||||
FLT3 ENST00000241453 NM_004119.2
|
||||
FLT4 ENST00000261937 NM_182925.4
|
||||
SFRP1 ENST00000220772 NM_003012.4
|
||||
IKZF3 ENST00000346872 NM_012481.4
|
||||
SFRP2 ENST00000274063 NM_003013.2
|
||||
SRSF2 ENST00000359995 NM_003016.4
|
||||
EP400 ENST00000389561 NM_015409.3
|
||||
H3C13 ENST00000331491 NM_001123375.2
|
||||
PPM1D ENST00000305921 NM_003620.3
|
||||
SGK1 ENST00000237305 NM_005627.3
|
||||
SCG5 ENST00000300175 NM_001144757.1
|
||||
KNSTRN ENST00000249776 NM_033286.3
|
||||
PIK3R3 ENST00000262741 NM_003629.3
|
||||
APC ENST00000257430 NM_000038.5
|
||||
PHF6 ENST00000332070 NM_001015877.1
|
||||
SESN3 ENST00000536441 NM_144665.3
|
||||
BIRC3 ENST00000263464 NM_182962.2
|
||||
FBXO11 ENST00000403359 NM_001190274.1
|
||||
XIAP ENST00000355640 NM_001167.3
|
||||
MSH2 ENST00000233146 NM_000251.2
|
||||
MSH3 ENST00000265081 NM_002439.4
|
||||
MSI1 ENST00000257552 NM_002442.3
|
||||
FAS ENST00000355740 NM_000043.4
|
||||
TMEM127 ENST00000258439 NM_001193304.2
|
||||
HDAC7 ENST00000427332 XM_011538481.1
|
||||
DIS3 ENST00000377767 NM_014953.3
|
||||
AR ENST00000374690 NM_000044.3
|
||||
ARAF ENST00000377045 NM_001654.4
|
||||
PREX2 ENST00000288368 NM_024870.2
|
||||
ARID3B ENST00000346246 NM_001307939.1
|
||||
RHOA ENST00000418115 NM_001664.2
|
||||
MST1 ENST00000449682 NM_020998.3
|
||||
MST1R ENST00000296474 NM_002447.2
|
||||
SETD2 ENST00000409792 NM_014159.6
|
||||
MTAP ENST00000380172 NM_002451.3
|
||||
KBTBD4 ENST00000395288 NM_016506.5
|
||||
BABAM1 ENST00000359435 NM_001033549.1
|
||||
DKK1 ENST00000373970 NM_012242.2
|
||||
CTCF ENST00000264010 NM_006565.3
|
||||
MTOR ENST00000361445 NM_004958.3
|
||||
DROSHA ENST00000344624 NM_013235.4
|
||||
GNA13 ENST00000439174 NM_006572.5
|
||||
PPP4R2 ENST00000356692 NM_174907.2
|
||||
TP63 ENST00000264731 NM_003722.4
|
||||
TET1 ENST00000373644 NM_030625.2
|
||||
NT5C2 ENST00000343289 NM_001134373.2
|
||||
ANKRD11 ENST00000301030 NM_013275.5
|
||||
SMARCA2 ENST00000349721 NM_001289396.1
|
||||
SMARCA4 ENST00000358026 NM_001128849
|
||||
CD274 ENST00000381577 NM_014143.3
|
||||
SMARCB1 ENST00000263121 NM_003073.3
|
||||
SMARCD1 ENST00000394963 NM_003076.4
|
||||
FLCN ENST00000285071 NM_144997.5
|
||||
SOCS1 ENST00000332029 NM_003745.1
|
||||
SMARCE1 ENST00000348513 NM_003079.4
|
||||
FOXP1 ENST00000318789 NM_001244814.1
|
||||
ZFHX3 ENST00000268489 NM_006885.3
|
||||
SMO ENST00000249373 NM_005631.4
|
||||
ATF1 ENST00000262053 NM_005171.4
|
||||
CARD11 ENST00000396946 NM_032415.4
|
||||
IRS2 ENST00000375856 NM_003749.2
|
||||
ATM ENST00000278616 NM_000051.3
|
||||
DOT1L ENST00000398665 NM_032482.2
|
||||
SUFU ENST00000369902 NM_016169.3
|
||||
SPEN ENST00000375759 NM_015001.2
|
||||
FYN ENST00000368678 NM_153047.3
|
||||
CMTR2 ENST00000338099 NM_001099642.1
|
||||
BBC3 ENST00000449228 NM_001127240.2
|
||||
PRDM14 ENST00000276594 NM_024504.3
|
||||
STAG2 ENST00000218089 NM_001042749.1
|
||||
SLX4 ENST00000294008 NM_032444.2
|
||||
DKK4 ENST00000220812 NM_014420.2
|
||||
DKK3 ENST00000326932 NM_001018057.1
|
||||
MUTYH ENST00000372115 NM_001048171.1
|
||||
DKK2 ENST00000285311 NM_014421.2
|
||||
GAB1 ENST00000262994 NM_002039.3
|
||||
PDCD1LG2 ENST00000397747 NM_025239.3
|
||||
SOS1 ENST00000402219 NM_005633.3
|
||||
CD276 ENST00000318443 NM_001024736.1
|
||||
SOX2 ENST00000325404 NM_003106.3
|
||||
MYC ENST00000377970 NM_002467.4
|
||||
MYCL ENST00000397332 NM_001033082.2
|
||||
MYCN ENST00000281043 NM_005378.4
|
||||
SOX9 ENST00000245479 NM_000346.3
|
||||
PDS5B ENST00000315596 NM_015032.3
|
||||
MYD88 ENST00000396334 NM_002468.4
|
||||
SMG1 ENST00000446231 NM_015092.4
|
||||
ATP6V1B2 ENST00000276390 NM_001693.3
|
||||
PLK2 ENST00000274289 NM_006622.3
|
||||
EED ENST00000263360 NM_003797.3
|
||||
ATP6AP1 ENST00000369762 NM_001183.5
|
||||
AGO2 ENST00000220592 NM_012154.3
|
||||
SETD1B ENST00000604567 XM_005253858.3
|
||||
ARID4B ENST00000264183 NM_001206794.1
|
||||
ATR ENST00000350721 NM_001184.3
|
||||
ATRX ENST00000373344 NM_000489.3
|
||||
RTEL1 ENST00000508582 NM_032957.4
|
||||
CDK12 ENST00000447079 NM_016507.2
|
||||
AXL ENST00000301178 NM_021913.4
|
||||
MYOD1 ENST00000250003 NM_002478.4
|
||||
B2M ENST00000558401 NM_004048.2
|
||||
SRC ENST00000358208 NM_198291.2
|
||||
TNFRSF14 ENST00000355716 NM_003820.2
|
||||
GATA1 ENST00000376670 NM_002049.3
|
||||
GATA2 ENST00000341105 NM_032638.4
|
||||
GATA3 ENST00000346208 NM_002051.2
|
||||
BARD1 ENST00000260947 NM_000465.2
|
||||
NBN ENST00000265433 NM_002485.4
|
||||
CCND1 ENST00000227507 NM_053056.2
|
||||
BCL2 ENST00000333681 NM_000633.2
|
||||
BCL2L1 ENST00000307677 NM_138578.1
|
||||
H3F3AP4 ENST00000316450 null
|
||||
BCL6 ENST00000232014 NM_001706.4
|
||||
BCL9 ENST00000234739 NM_004326.3
|
||||
BCR ENST00000305877 NM_004327.3
|
||||
SS18 ENST00000415083 NM_001007559.2
|
||||
SESN1 ENST00000436639 NM_014454.2
|
||||
CRLF2 ENST00000381566 NM_022148.2
|
||||
CIC ENST00000575354 NM_015125.3
|
||||
ARID5A ENST00000357485 NM_212481.1
|
||||
STAT1 ENST00000361099 NM_007315.3
|
||||
STAT2 ENST00000314128 NM_005419.3
|
||||
INPP4B ENST00000262992 NM_001101669.1
|
||||
STAT3 ENST00000264657 NM_139276.2
|
||||
STAT5A ENST00000345506 NM_003152.3
|
||||
STAT5B ENST00000293328 NM_012448.3
|
||||
RRAGC ENST00000373001 NM_022157.3
|
||||
STAT6 ENST00000300134 NM_001178078.1
|
||||
CXORF67 ENST00000342995 NM_203407.2
|
||||
PRDM1 ENST00000369096 NM_001198.3
|
||||
BLM ENST00000355112 NM_000057.2
|
||||
AURKA ENST00000312783 NM_003600.2
|
||||
NUTM1 ENST00000333756 XM_011521429.1
|
||||
STK11 ENST00000326873 NM_000455.4
|
||||
MALT1 ENST00000348428 NM_006785.3
|
||||
LARP4B ENST00000316157 NM_015155.2
|
||||
BMPR1A ENST00000372037 NM_004329.2
|
||||
NF1 ENST00000356175 NM_000267
|
||||
STK19 ENST00000375331 NM_004197.1
|
||||
FOXL2 ENST00000330315 NM_023067.3
|
||||
BRCA1 ENST00000357654 NM_007294.3
|
||||
BRAF ENST00000288602 NM_004333.4
|
||||
BRCA2 ENST00000380152 NM_000059.3
|
||||
NF2 ENST00000338641 NM_000268.3
|
||||
ZFP36L1 ENST00000336440 NM_001244698.1
|
||||
NFE2 ENST00000312156 NM_001136023.2
|
||||
NFE2L2 ENST00000397062 NM_006164.4
|
||||
GLI1 ENST00000228682 NM_005269.2
|
||||
KLF5 ENST00000377687 NM_001730.4
|
||||
FUBP1 ENST00000370768 NM_003902.3
|
||||
BTG1 ENST00000256015 NM_001731.2
|
||||
BTK ENST00000308731 NM_000061.2
|
||||
NFKBIA ENST00000216797 NM_020529.2
|
||||
SYK ENST00000375746 NM_003177.5
|
||||
PNRC1 ENST00000336032 NM_006813.2
|
||||
GNA11 ENST00000078429 NM_002067.2
|
||||
GNA12 ENST00000275364 NM_007353.2
|
||||
BCL10 ENST00000370580 NM_003921.4
|
||||
MEF2B ENST00000162023 NM_001145785.1
|
||||
NKX3-1 ENST00000380871 NM_006167.3
|
||||
GNAQ ENST00000286548 NM_002072.3
|
||||
GNAS ENST00000371085 NM_000516.4
|
||||
GNB1 ENST00000378609 NM_001282539.1
|
||||
PHOX2B ENST00000226382 NM_003924.3
|
||||
MGA ENST00000219905 NM_001164273.1
|
||||
TAL1 ENST00000294339 NM_001287347.2
|
||||
TAP1 ENST00000354258 NM_000593.5
|
||||
TAP2 ENST00000374899 NM_018833.2
|
||||
NOTCH1 ENST00000277541 NM_017617.3
|
||||
NOTCH2 ENST00000256646 NM_024408.3
|
||||
NOTCH3 ENST00000263388 NM_000435.2
|
||||
NOTCH4 ENST00000375023 NM_004557.3
|
||||
NPM1 ENST00000296930 NM_002520.6
|
||||
H3C7 ENST00000446824 NM_021018.2
|
||||
HIST1H2AG ENST00000358739 NM_003509.2
|
||||
ELOC ENST00000284811 NM_005648.3
|
||||
HIST1H2BJ ENST00000339812 NM_021058.3
|
||||
ICOSLG ENST00000407780 NM_015259.4
|
||||
MGAM ENST00000549489 NM_004668.2
|
||||
RAB35 ENST00000229340 NM_006861.6
|
||||
TBX3 ENST00000257566 NM_016569.3
|
||||
HNF1A ENST00000257555 NM_000545.5
|
||||
TCF3 ENST00000344749 NM_001136139.2
|
||||
TCF7L2 ENST00000543371 NM_001146274.1
|
||||
RPS6KA4 ENST00000334205 NM_003942.2
|
||||
ARHGEF28 ENST00000426542 NM_001177693.1
|
||||
NRAS ENST00000369535 NM_002524.4
|
||||
CALR ENST00000316448 NM_004343.3
|
||||
TRA
|
||||
TRB
|
||||
NTHL1 ENST00000219066 NM_002528.5
|
||||
KMT5A ENST00000330479 NM_020382.3
|
||||
NTRK1 ENST00000524377 NM_002529.3
|
||||
NTRK2 ENST00000277120 NM_006180.3
|
||||
NTRK3 ENST00000360948 NM_001012338.2
|
||||
TRD
|
||||
TRG
|
||||
DDR2 ENST00000367921 NM_006182.2
|
||||
GPS2 ENST00000380728 NM_004489.4
|
||||
KSR2 ENST00000339824
|
||||
MAP3K14 ENST00000344686 NM_003954.3
|
||||
SOCS3 ENST00000330871 NM_003955.4
|
||||
NUP98 ENST00000359171 XM_005252950.1
|
||||
MPEG1 ENST00000361050 NM_001039396.1
|
||||
SOX17 ENST00000297316 NM_022454.3
|
||||
NSD1 ENST00000439151 NM_022455.4
|
||||
COP1 ENST00000367669 NM_022457.5
|
||||
CASP8 ENST00000358485 NM_001080125.1
|
||||
SETD4 ENST00000332131 NM_017438.4
|
||||
GRIN2A ENST00000330684 NM_001134407.1
|
||||
NCSTN ENST00000294785 NM_015331.2
|
||||
ARHGAP35 ENST00000404338 NM_004491.4
|
||||
RUNX1 ENST00000300305 NM_001754.4
|
||||
RUNX1T1 ENST00000265814 NM_001198626.1
|
||||
CBFB ENST00000412916 NM_022845.2
|
||||
TEK ENST00000380036 NM_000459.3
|
||||
CBL ENST00000264033 NM_005188.3
|
||||
TERT ENST00000310581 NM_198253.2
|
||||
DICER1 ENST00000343455 NM_030621.3
|
||||
PTPRT ENST00000373198 NM_133170.3
|
||||
GSK3B ENST00000316626 NM_002093.3
|
||||
TFE3 ENST00000315869 NM_006521.5
|
||||
CCND2 ENST00000261254 NM_001759.3
|
||||
CCND3 ENST00000372991 NM_001760.3
|
||||
CCNE1 ENST00000262643 NM_001238.2
|
||||
RYBP ENST00000477973 NM_012234.5
|
||||
TGFBR1 ENST00000374994 NM_004612.2
|
||||
TGFBR2 ENST00000295754 NM_003242
|
||||
MSH6 ENST00000234420 NM_000179.2
|
||||
USP8 ENST00000307179 NM_001128610.2
|
||||
DCUN1D1 ENST00000292782 NM_020640.2
|
||||
GTF2I ENST00000324896 NM_032999.3
|
||||
LATS1 ENST00000253339 NM_004690.3
|
||||
SF3B1 ENST00000335508 NM_012433.2
|
||||
SMC3 ENST00000361804 NM_005445.3
|
||||
NKX2-1 ENST00000354822 NM_001079668.2
|
||||
CD28 ENST00000324106 NM_006139.3
|
||||
TLE1 ENST00000376499 NM_001303103.1
|
||||
TLE2 ENST00000262953 NM_003260.4
|
||||
TLE3 ENST00000558939 NM_005078.3
|
||||
TLE4 ENST00000376552 NM_007005.4
|
||||
BRD4 ENST00000263377 NM_058243.2
|
||||
FURIN ENST00000268171 NM_001289823.1
|
||||
WIF1 ENST00000286574 NM_007191.4
|
||||
H1-2 ENST00000343677 NM_005319.3
|
||||
ERRFI1 ENST00000377482 NM_018948.3
|
||||
HIST1H1D ENST00000244534 NM_005320.2
|
||||
CHEK2 ENST00000328354 NM_007194.3
|
||||
HIST1H1E ENST00000304218 NM_005321.2
|
||||
HIST1H1B ENST00000331442 NM_005322.2
|
||||
PAK1 ENST00000356341 NM_002576.4
|
||||
CD58 ENST00000369489 NM_001779.2
|
||||
H2BC5 ENST00000289316 NM_021063.3
|
||||
TMPRSS2 ENST00000398585 NM_001135099.1
|
||||
H3-3A ENST00000366813 NM_002107.4
|
||||
H3-3B ENST00000254810 NM_005324.3
|
||||
CD79A ENST00000221972 NM_001783.3
|
||||
CD79B ENST00000392795 NM_001039933.1
|
||||
PRKN ENST00000366898 NM_004562.2
|
||||
SETD7 ENST00000274031 NM_001306199.1
|
||||
MAP3K13 ENST00000265026 NM_004721.4
|
||||
PAX5 ENST00000358127 NM_016734.2
|
||||
SUZ12 ENST00000322652 NM_015355.2
|
||||
TNFAIP3 ENST00000237289 NM_006290.3
|
||||
AJUBA ENST00000262713 NM_032876.5
|
||||
PCBP1 ENST00000303577 NM_006196.3
|
||||
CDC42 ENST00000344548 NM_001791.3
|
||||
CDH1 ENST00000261769 NM_004360.3
|
||||
TOP1 ENST00000361337 NM_003286.2
|
||||
TP53 ENST00000269305 NM_000546.5
|
||||
TP53BP1 ENST00000382044 NM_001141980.1
|
||||
HDAC1 ENST00000373548 NM_004964.2
|
||||
CDK4 ENST00000257904 NM_000075.3
|
||||
AURKB ENST00000585124 NM_004217.3
|
||||
CDK6 ENST00000265734 NM_001145306.1
|
||||
SP140 ENST00000392045 NM_007237.4
|
||||
CDK8 ENST00000381527 NM_001260.1
|
||||
CDKN1A ENST00000244741 NM_078467.2
|
||||
CDKN1B ENST00000228872 NM_004064.3
|
||||
CDKN2A ENST00000304494 NM_000077.4
|
||||
CDKN2B ENST00000276925 NM_004936.3
|
||||
CDKN2C ENST00000262662 NM_078626.2
|
||||
HGF ENST00000222390 NM_000601.4
|
||||
NRG1 ENST00000405005 NM_013964.3
|
||||
ASXL1 ENST00000375687 NM_015338.5
|
||||
PDCD1 ENST00000334409 NM_005018.2
|
||||
TRAF2 ENST00000247668 NM_021138.3
|
||||
HIF1A ENST00000337138 NM_001530.3
|
||||
TRAF3 ENST00000392745 NM_003300.3
|
||||
TRAF5 ENST00000261464 NM_001033910.2
|
||||
CEBPA ENST00000498907 NM_004364.3
|
||||
HLA-A ENST00000376809 NM_001242758.1
|
||||
CENPA ENST00000335756 NM_001809.3
|
||||
HLA-B ENST00000412585 NM_005514.6
|
||||
PDGFB ENST00000331163 NM_002608.2
|
||||
HLA-C ENST00000376228 NM_002117.5
|
||||
PDGFRA ENST00000257290 NM_006206.4
|
||||
PDGFRB ENST00000261799 NM_002609.3
|
||||
PDPK1 ENST00000342085 NM_002613.4
|
||||
BACH2 ENST00000257749 NM_001170794.1
|
||||
U2AF2 ENST00000308924 NM_007279.2
|
||||
TSC1 ENST00000298552 NM_000368.4
|
||||
TSC2 ENST00000219476 NM_000548.3
|
||||
TSHR ENST00000298171 NM_000369.2
|
||||
CHEK1 ENST00000428830 NM_001274.5
|
||||
FOXA1 ENST00000250448 NM_004496.3
|
||||
KLF4 ENST00000374672 NM_004235.4
|
||||
TRIP13 ENST00000166345 NM_004237.3
|
||||
PGR ENST00000325455 NM_000926.4
|
||||
TLX1 ENST00000370196 NM_005521.3
|
||||
TYK2 ENST00000264818 NM_003331.4
|
||||
U2AF1 ENST00000291552 NM_006758.2
|
||||
KMT2C ENST00000262189 NM_170606.2
|
||||
PIGA ENST00000333590 NM_002641.3
|
||||
PIK3C2G ENST00000266497 NM_004570.4
|
||||
PIK3C3 ENST00000262039 NM_002647.2
|
||||
PIK3CA ENST00000263967 NM_006218.2
|
||||
NEGR1 ENST00000357731 NM_173808.2
|
||||
PIK3CB ENST00000289153 NM_006219.2
|
||||
PIM1 ENST00000373509 NM_002648.3
|
||||
PIK3CD ENST00000377346 NM_005026.3
|
||||
PIK3CG ENST00000359195 NM_002649.2
|
||||
PIK3R1 ENST00000274335 NM_181523.2
|
||||
PIK3R2 ENST00000222254 NM_005027.3
|
||||
RECQL4 ENST00000428558 ENST00000428558
|
||||
ETAA1 ENST00000272342 NM_019002.3
|
||||
HRAS ENST00000311189 NM_001130442.1
|
||||
PLCG1 ENST00000373271 NM_182811.1
|
||||
PLCG2 ENST00000359376 NM_002661.3
|
||||
KDM6A ENST00000377967 NM_021140.2
|
||||
VAV1 ENST00000602142 NM_005428.3
|
||||
DDX4 ENST00000505374 NM_024415.2
|
||||
SMYD3 ENST00000388985 NM_001167740.1
|
||||
VAV2 ENST00000371850 NM_001134398.1
|
||||
HIST1H2BK ENST00000356950 NM_080593.2
|
||||
PMAIP1 ENST00000316660 NM_021127.2
|
||||
VEGFA ENST00000523873 NM_001171623.1
|
||||
PMS1 ENST00000441310 NM_000534.4
|
||||
VHL ENST00000256474 NM_000551.3
|
||||
MAPKAP1 ENST00000265960 NM_001006617.1
|
||||
DNAJB1 ENST00000254322 NM_006145.1
|
||||
RBM15 ENST00000369784 NM_022768.4
|
||||
PMS2 ENST00000265849 NM_000535.5
|
||||
WHSC1 ENST00000382891 NM_001042424.2
|
||||
POLD1 ENST00000440232 NM_002691.3
|
||||
POLE ENST00000320574 NM_006231.2
|
||||
POT1 ENST00000357628 NM_015450.2
|
||||
TLX3 ENST00000296921 NM_021025.2
|
||||
IRF8 ENST00000268638 NM_002163.2
|
||||
WT1 ENST00000332351 NM_024426.4
|
||||
XBP1 ENST00000216037 NM_005080.3
|
||||
ID3 ENST00000374561 NM_002167.4
|
||||
RICTOR ENST00000357387 NM_152756.3
|
||||
WWTR1 ENST00000360632 NM_001168280.1
|
||||
SAMHD1 ENST00000262878 NM_015474.3
|
||||
IDH1 ENST00000345146 NM_005896.2
|
||||
XPO1 ENST00000401558 NM_003400.3
|
||||
IDH2 ENST00000330062 NM_002168.2
|
||||
XRCC2 ENST00000359321 NM_005431.1
|
||||
PPARG ENST00000287820 NM_015869.4
|
||||
YES1 ENST00000314574 NM_005433.3
|
||||
YY1 ENST00000262238 NM_003403.4
|
||||
CREB1 ENST00000432329 NM_134442.3
|
||||
CREBBP ENST00000262367 NM_004380.2
|
||||
CRKL ENST00000354336 NM_005207.3
|
||||
IFNGR1 ENST00000367739 NM_000416.2
|
||||
NCOR1 ENST00000268712 NM_006311.3
|
||||
NCOR2 ENST00000405201 NM_006312.6
|
||||
PPP2R1A ENST00000322088 NM_014225.5
|
||||
PPP2R2A ENST00000380737 NM_002717.3
|
||||
TCL1B ENST00000340722 NM_004918.3
|
||||
IGF1 ENST00000307046 NM_001111285.1
|
||||
BCL11B ENST00000357195 NM_138576.3
|
||||
IGF1R ENST00000268035 NM_000875.3
|
||||
IGF2 ENST00000434045 NM_001127598.1
|
||||
CSF1R ENST00000286301 NM_005211.3
|
||||
CSF3R ENST00000361632 NM_000760.3
|
||||
PPP6C ENST00000373547 NM_002721.4
|
||||
IKBKE ENST00000367120 NM_014002.3
|
||||
CCNB3 ENST00000276014 NM_033031.2
|
||||
CTR9 ENST00000361367 NM_014633.4
|
||||
MDC1 ENST00000376406 NM_014641.2
|
||||
SETBP1 ENST00000282030 NM_015559.2
|
||||
PRKACA ENST00000308677 NM_002730.3
|
||||
PRKAR1A ENST00000358598 NM_212471.2
|
||||
PRKCI ENST00000295797 NM_002740.5
|
||||
FEV ENST00000295727 NM_017521.2
|
||||
PRKD1 ENST00000331968 NM_002742.2
|
||||
CTLA4 ENST00000302823 NM_005214.4
|
||||
NUP93 ENST00000308159 NM_014669.4
|
||||
SLFN11 ENST00000308377 NM_001104587.1
|
||||
ARID3C ENST00000378909 NM_001017363.1
|
||||
MAPK1 ENST00000215832 NM_002745.4
|
||||
CTNNB1 ENST00000349496 NM_001904.3
|
||||
MAPK3 ENST00000263025 NM_002746.2
|
||||
MAP2K1 ENST00000307102 NM_002755.3
|
||||
MAP2K2 ENST00000262948 NM_030662.3
|
||||
IL3 ENST00000296870 NM_000588.3
|
||||
CUX1 ENST00000292535 NM_181552.3
|
||||
IL7R ENST00000303115 NM_002185.3
|
||||
IL10 ENST00000423557 NM_000572.2
|
||||
CYLD ENST00000398568 NM_001042355.1
|
||||
TET2 ENST00000380013 NM_001127208.2
|
||||
SETD1A ENST00000262519 NM_014712.2
|
||||
PRSS1 ENST00000311737 NM_002769.4
|
||||
RELN ENST00000428762 NM_005045.3
|
||||
ZBTB20 ENST00000474710 NM_001164342.2
|
||||
KMT2B ENST00000222270 NM_014727.1
|
||||
HDAC4 ENST00000345617 NM_006037.3
|
||||
INHA ENST00000243786 NM_002191.3
|
||||
INHBA ENST00000242208 NM_002192.2
|
||||
INPP4A ENST00000074304 NM_001134224.1
|
||||
CYP19A1 ENST00000260433 NM_000103.3
|
||||
INPPL1 ENST00000298229 NM_001567.3
|
||||
INSR ENST00000302850 NM_000208.2
|
||||
BCORL1 ENST00000218147
|
||||
TENT5C ENST00000369448 NM_017709.3
|
||||
IRF1 ENST00000245414 NM_002198.2
|
||||
IRF4 ENST00000380956 NM_002460.3
|
||||
DAXX ENST00000374542 NM_001141970.1
|
||||
NUF2 ENST00000271452 NM_031423.3
|
||||
IRS1 ENST00000305123 NM_005544.2
|
||||
KEAP1 ENST00000171111 NM_203500.1
|
||||
PTCH1 ENST00000331920 NM_000264.3
|
||||
PTEN ENST00000371953 NM_000314.4
|
||||
BCOR ENST00000378444 NM_001123385.1
|
||||
ELMSAN1 ENST00000286523 NM_001043318.2
|
||||
DUSP22 ENST00000344450 NM_020185.4
|
||||
RNF43 ENST00000407977 NM_017763.4
|
||||
DDIT3 ENST00000346473 NM_001195057.1
|
||||
GAB2 ENST00000361507 NM_080491.2
|
||||
DDX3X ENST00000399959 NM_001356.4
|
||||
NSD3 ENST00000317025 NM_023034.1
|
||||
PTP4A1 ENST00000370651 NM_003463.4
|
||||
MSI2 ENST00000284073 NM_138962.2
|
||||
CSDE1 ENST00000438362 NM_001242891.1
|
||||
JAK1 ENST00000342505 NM_002227.2
|
||||
JAK2 ENST00000381652 NM_004972.3
|
||||
JAK3 ENST00000458235 NM_000215.3
|
||||
JARID2 ENST00000341776 NM_004973.3
|
||||
PTPN1 ENST00000371621 NM_001278618.1
|
||||
PTPN2 ENST00000309660 NM_002828.3
|
||||
SETDB1 ENST00000271640 NM_001145415.1
|
||||
JUN ENST00000371222 NM_002228.3
|
||||
PTPN11 ENST00000351677 NM_002834.3
|
||||
PTPRD ENST00000356435 NM_002839.3
|
||||
SDHAF2 ENST00000301761 NM_017841.2
|
||||
PAX8 ENST00000263334 NM_003466.3
|
||||
PTPRS ENST00000357368 NM_002850.3
|
||||
CXCR4 ENST00000241393 NM_003467.2
|
||||
NADK ENST00000341426 NM_001198993.1
|
||||
MAFB ENST00000373313 NM_005461.4
|
||||
KDR ENST00000263923 NM_002253.2
|
||||
SESN2 ENST00000253063 NM_031459.4
|
||||
CDC73 ENST00000367435 NM_024529.4
|
||||
TET3 ENST00000409262 NM_144993
|
||||
KIT ENST00000288135 NM_000222.2
|
||||
DEK ENST00000397239 NM_003472.3
|
||||
FGF19 ENST00000294312 NM_005117.2
|
||||
MED12 ENST00000374080 NM_005120.2
|
||||
PGBD5 ENST00000525115 NM_001258311.1
|
||||
RAC1 ENST00000356142 NM_018890.3
|
||||
RAC2 ENST00000249071 NM_002872.4
|
||||
DNMT1 ENST00000340748 NM_001379.2
|
||||
DNMT3A ENST00000264709 NM_022552.4
|
||||
RAD21 ENST00000297338 NM_006265.2
|
||||
DNMT3B ENST00000328111 NM_006892.3
|
||||
RAD51 ENST00000267868 NM_002875.4
|
||||
RAD51C ENST00000337432 NM_058216.2
|
||||
RAD51B ENST00000487270 NM_133509.3
|
||||
RAD51D ENST00000345365 NM_002878
|
||||
KRAS ENST00000311936 NM_004985
|
||||
RAD52 ENST00000358495 NM_134424.2
|
||||
RAF1 ENST00000251849 NM_002880.3
|
||||
AKT3 ENST00000263826 NM_005465.4
|
||||
CYSLTR2 ENST00000282018 NM_020377.2
|
||||
RARA ENST00000254066 NM_000964.3
|
||||
H3-5 ENST00000340398 NM_001013699.2
|
||||
ARID3A ENST00000263620 NM_005224.2
|
||||
RASA1 ENST00000274376 NM_002890.2
|
||||
BCL2L11 ENST00000393256 NM_138621.4
|
||||
SH2B3 ENST00000341259 NM_005475.2
|
||||
RB1 ENST00000267163 NM_000321.2
|
||||
ARID4A ENST00000355431 NM_002892.3
|
||||
KDM5A ENST00000399788 NM_001042603.1
|
||||
DTX1 ENST00000257600 NM_004416.2
|
||||
DUSP4 ENST00000240100 NM_001394.6
|
||||
PAK5 ENST00000353224 NM_177990.2
|
||||
KAT6A ENST00000265713 NM_006766.4
|
||||
VTCN1 ENST00000369458 NM_024626.3
|
||||
P2RY8 ENST00000381297 NM_178129.4
|
||||
RECQL ENST00000421138 NM_032941.2
|
||||
NR4A3 ENST00000395097 NM_006981.3
|
||||
ECT2L ENST00000367682 NM_001077706.2
|
||||
REL ENST00000295025 NM_002908.2
|
||||
E2F3 ENST00000346618 NM_001949.4
|
||||
FANCL ENST00000233741 NM_018062.3
|
||||
UPF1 ENST00000262803 NM_002911.3
|
||||
REST ENST00000309042 NM_001193508.1
|
||||
RET ENST00000355710 NM_020975.4
|
||||
MLLT10 ENST00000307729 NM_001195626.1
|
||||
LCK ENST00000336890 NM_001042771.2
|
||||
CCNQ ENST00000576892 NM_152274.4
|
||||
SHOC2 ENST00000369452 NM_007373.3
|
||||
TBL1XR1 ENST00000430069 NM_024665.4
|
||||
PALB2 ENST00000261584 NM_024675.3
|
||||
RHEB ENST00000262187 NM_005614.3
|
||||
SHQ1 ENST00000325599 NM_018130.2
|
||||
RAD50 ENST00000265335 NM_005732.3
|
||||
RIT1 ENST00000368323 NM_006912.5
|
||||
ESCO2 ENST00000305188 NM_001017420.2
|
||||
SETDB2 ENST00000354234 NM_031915.2
|
||||
ZNF750 ENST00000269394 NM_024702.2
|
||||
KMT2D ENST00000301067 NM_003482.3
|
||||
PBRM1 ENST00000394830 NM_018313.4
|
||||
AGO1 ENST00000373204 NM_012199.2
|
||||
LATS2 ENST00000382592 NM_014572.2
|
||||
DAZAP1 ENST00000233078 NM_018959.3
|
||||
EGFR ENST00000275493 NM_005228.3
|
||||
LMO1 ENST00000335790 NM_002315.2
|
||||
LMO2 ENST00000395833 NM_001142315.1
|
||||
EGR1 ENST00000239938 NM_001964.2
|
||||
SETD5 ENST00000402198 NM_001080517.2
|
||||
EIF1AX ENST00000379607 NM_001412.3
|
||||
ARID2 ENST00000334344 NM_152641.2
|
||||
TCL1A ENST00000402399 NM_001098725.1
|
||||
EIF4A2 ENST00000323963 NM_001967.3
|
||||
EIF4E ENST00000280892 NM_001130678.1
|
||||
LRP6 ENST00000261349 NM_002336.2
|
||||
LRP5 ENST00000294304 NM_001291902.1
|
||||
MOB3B ENST00000262244 NM_024761.4
|
||||
ROBO1 ENST00000464233 NM_002941.3
|
||||
ELF3 ENST00000359651 NM_004433.4
|
||||
SPRED1 ENST00000299084 NM_152594.2
|
||||
LTB ENST00000376117 NM_002341.1
|
||||
ROS1 ENST00000368508 NM_002944.2
|
||||
ASXL2 ENST00000435504 NM_018263.4
|
||||
GREM1 ENST00000300177 NM_013372.6
|
||||
EGFL7 ENST00000308874 NM_201446.2
|
||||
SPRTN ENST00000295050 NM_032018.6
|
||||
STK40 ENST00000373129 NM_032017.1
|
||||
|
|
@ -0,0 +1,3 @@
|
|||
#2022-02-09
|
||||
WPS直接保存会出现问号形式的乱码，所有文件重新更新一下，以另存为的形式保存
|
||||
基因突变的编号和药物编号自行按照顺序修改
|
||||
File diff suppressed because it is too large
Load Diff
File diff suppressed because it is too large
Load Diff
File diff suppressed because one or more lines are too long
|
|
@ -0,0 +1,26 @@
|
|||
#!/usr/bin/python
|
||||
#-*-coding:UTF-8-*-
|
||||
|
||||
import sys
|
||||
import pandas as pd
|
||||
from pandas import Series,DataFrame
|
||||
|
||||
if len(sys.argv) != 3:
|
||||
print("usage:python sys.argv[0] unsorted_database sorted_database")
|
||||
sys.exit()
|
||||
|
||||
data=pd.read_csv(sys.argv[1],sep='\t')
|
||||
data['pos']=data.Molecular_Profile.str.extract('(\d+)')
|
||||
data.loc[data['pos'].isnull(),'pos']=10000
|
||||
data['pos']=data['pos'].astype(int)
|
||||
data.dtypes
|
||||
|
||||
df_mapping = pd.DataFrame({
|
||||
'Evidence_Source_C': ['FDA', 'NMPA', 'NCCN', '临床III期', '临床II期', '临床I期', '临床试验', '回顾性研究', '个案', '临床前研究'],
|
||||
})
|
||||
sort_mapping = df_mapping.reset_index().set_index('Evidence_Source_C')
|
||||
data['level'] = data['Evidence_Source_C'].map(sort_mapping['index'])
|
||||
|
||||
data.sort_values(by=['Gene_Symbol','pos','level'],ascending=True,inplace=True)
|
||||
data.drop(['pos','level'],axis=1,inplace=True)
|
||||
data.to_csv(sys.argv[2],index=False,sep='\t')
|
||||
Loading…
Reference in New Issue