zoukankan      html  css  js  c++  java
  • Splice_Region的定义

    在vcf2maf中,对splice_site 和 splice_region都做了明确的说明。

    splice_region

    return "Splice_Region" if( $effect eq 'splice_region_variant' )
    splice_region_variant => 8, # A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron
    Splice_region: 变异发生在splice site区域内或者外显子的1-3碱基处或者内含子的3-8碱基处

    Splice_Site

    return "Splice_Site" if( $effect =~ /^(splice_acceptor_variant|splice_donor_variant|transcript_ablation|exon_loss_variant)$/ );
    Splice_Site 又细分到 splice_acceptor_variantsplice_donor_varianttranscript_ablationexon_loss_variant

    splice_acceptor_variant => 2, # A splice variant that changes the 2 base region at the 3' end of an intron
    Splice_acceptor_variant 在intron的3'端2碱基范围内的变异

    splice_donor_variant => 2, # A splice variant that changes the 2 base region at the 5' end of an intron
    Splice_donor_variant 在内含子5'端2碱基范围内的变异

    exon_loss_variant => 1, # A sequence variant whereby an exon is lost from the transcript
    Exon_loss_variant 转录本中的一个外显子丢失

    transcript_ablation => 1, # A feature ablation whereby the deleted region includes a transcript feature
    Transcript_ablation 消失区域包括转录特征的特征消融

  • 相关阅读:
    opencv目录
    qt5-编译并添加opencv库
    java版gRPC实战之二:服务发布和调用
    java版gRPC实战之一:用proto生成代码
    github搜索技巧小结
    client-go实战之五:DiscoveryClient
    client-go实战之四:dynamicClient
    client-go实战之三:Clientset
    client-go实战之二:RESTClient
    client-go实战之一:准备工作
  • 原文地址:https://www.cnblogs.com/yuwq/p/11451350.html
Copyright © 2011-2022 走看看