Abstract
Synonymous mutations have been identified to play important roles in cancer development. We investigated the characters of pathogenic and neutral somatic synonymous mutations identified by FATHMM across 15 cancer types from COSMIC. The comparisons of pathogenic synonymous mutations with neutral ones were performed with DNA-based characters to explore their functional mutations. Differences among pathogenic and neutral synonymous mutations are significant, for instance, pathogenic mutations were more conserved and with larger effect on splicing and translation. The function annotations of synonymous mutation were important mechanistic clues for downstream effects on gene and laid the groundwork for understanding the somatic synonymous mutations.
Published Version
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