先前在文章“Correlation of Somatic Mutation and Expression Identifies Genes Important in Human Glioblastoma Progression and Survival”中看到了一個詞“non-silent”,non-silent somatic mutation到底包含哪些類型的突變?-然而在百度或者bing上搜索并未搜索一個確定的結(jié)果
于是我就到各個文章上搜non-silent mutation,沒有搜索到完整的結(jié)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的突變數(shù)據(jù)時,突變數(shù)據(jù)描述信息上給出這樣的信息
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,如果你覺的還包含哪些類型的突變,請在評論區(qū)留言,寫出你的看法和參考資料
注:ucsc xena提供了non-silent somatic mutation ,它是gene-level的突變矩陣:行是基因,列是樣本,值為1的是突變。

ucsc xena
參考資料2:
https://www.ncbi.nlm.nih.gov/books/NBK44488/#Reports.what_does_it_mean_when_an_snp_is_1