先前在文章“Correlation of Somatic Mutation and Expression Identifies Genes Important in Human Glioblastoma Progression and Survival”中看到了一个词“non-silent”,non-silent somatic mutation到底包含哪些类型的突变?-然而在百度或者bing上搜索并未搜索一个确定的结果
于是我就到各个文章上搜non-silent mutation,没有搜索到完整的结果:Spatial and temporal clonal evolution of intrahepatic cholangiocarcinoma.提到
- We identified a total of 1,596 non-silent mutations, including 1,312 missenses, 85 nonsenses, 25 splice-site variants and 174 insertions or deletions in those 69 PDPCs
- 在ucsc上搜索GBM的突变数据时,突变数据描述信息上给出这样的信息
a non-silent somatic mutation (nonsense, missense, frame-shif indels, splice site mutations, stop codon readthroughs, change of start codon, inframe indels) was identified in the protein coding region of a gene, or any mutation identified in a non-coding gene.
所以non-silent包含
- nonsense,
- missense,
- frame-shif indels
- splice site mutations,
- stop codon readthroughs
- change of start codon
- inframe indels -from ucsc
- insertions or deletions -from《Spatial and temporal clonal evolution of intrahepatic cholangiocarcinoma.》
可能上方列出的non-silent mutation不是最全的,如果你觉的还包含哪些类型的突变,请在评论区留言,写出你的看法和参考资料
注:ucsc xena提供了non-silent somatic mutation ,它是gene-level的突变矩阵:行是基因,列是样本,值为1的是突变。
参考资料2:
https://www.ncbi.nlm.nih.gov/books/NBK44488/#Reports.what_does_it_mean_when_an_snp_is_1
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