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A pan-cancer analysis of synonymous mutations.

Abstract：

:Synonymous mutations have been viewed as silent mutations, since they only affect the DNA and mRNA, but not the amino acid sequence of the resulting protein. Nonetheless, recent studies suggest their significant impact on splicing, RNA stability, RNA folding, translation or co-translational protein folding. Hence, we compile 659194 synonymous mutations found in human cancer and characterize their properties. We provide the user-friendly, comprehensive resource for synonymous mutations in cancer, SynMICdb ( http://SynMICdb.dkfz.de ), which also contains orthogonal information about gene annotation, recurrence, mutation loads, cancer association, conservation, alternative events, impact on mRNA structure and a SynMICdb score. Notably, synonymous and missense mutations are depleted at the 5'-end of the coding sequence as well as at the ends of internal exons independent of mutational signatures. For patient-derived synonymous mutations in the oncogene KRAS, we indicate that single point mutations can have a relevant impact on expression as well as on mRNA secondary structure.

journal_name

Nat Commun

journal_title

Nature communications

authors

Sharma Y,Miladi M,Dukare S,Boulay K,Caudron-Herger M,Groß M,Backofen R,Diederichs S

doi

10.1038/s41467-019-10489-2

subject

Has Abstract

pub_date

2019-06-12 00:00:00

pages

2569

issue

1

issn

2041-1723

pii

10.1038/s41467-019-10489-2

journal_volume

10

pub_type

杂志文章

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