hgvs 采用标准转录本
parent
157fa94ef8
commit
778d55ed5b
|
|
@ -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';
|
||||
}
|
||||
|
||||
}
|
||||
|
|
|
|||
Loading…
Reference in New Issue