@article{Sharma_Miladi_Dukare-pan_analy_synon-2019,
author = {Sharma, Yogita and Miladi, Milad and Dukare, Sandeep and Boulay, Karine and Caudron-Herger, Maiwen and Gross, Matthias and Backofen, Rolf and Diederichs, Sven},
title = {A pan-cancer analysis of synonymous mutations},
journal = {Nature communications},
year = {2019},
doi = {10.1038/s41467-019-10489-2},
volume = {10},
user = {miladim},
pmid = {31189880},
pages = {2569},
number = {1},
issn = {2041-1723},
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.}
}