hgvs 采用标准转录本

master
chaopower 2024-02-26 10:06:23 +08:00
parent 157fa94ef8
commit 778d55ed5b
1 changed files with 11 additions and 7 deletions

View File

@ -189,18 +189,22 @@ while (<IN>) {
push @reason, 'not_need_spl_inron';
}
my @hgvs = split(/,/, $line[9]);
my $hgvs = $hgvs[0];
# my $hgvs = $hgvs[0];
my $transcript_gene;
$transcript_gene = $transcript{$gene} if (exists $transcript{$gene});
my $hgvs;
if (grep {/$transcript_gene/} @hgvs) {
$hgvs = (grep {/$transcript_gene/} @hgvs)[0];
}
$line[9] = $hgvs;
$line[9] = $hgvs;
$hgvs =~ /:(NM_\d+):exon\d+:(c\.\S+):p\.(\S+)$/;
$protein = $3;
if ($protein =~ /\d+X$|\d+\*$/ or $line[8] eq 'stopgain' or $line[8] eq 'frameshift deletion' or $line[8] eq 'frameshift insertion') {
$protein = 'Truncating Mutations';
$hgvs =~ /:(NM_\d+):exon\d+:(c\.\S+):p\.(\S+)$/;
$protein = $3;
if ($protein =~ /\d+X$|\d+\*$/ or $line[8] eq 'stopgain' or $line[8] eq 'frameshift deletion' or $line[8] eq 'frameshift insertion') {
$protein = 'Truncating Mutations';
}
}
else {
push @reason, 'not_correct_hgvs';
}
}