Figure 9.

Exonic outlier mutation genes: mutation positions and negative selection validation. (A) Negatively selected coding exonic outliers identified in this study (repeat length: 10). (B) Schematic structure of wild-type (in grey) or mutant (in black) proteins of the 9 outlier mutation genes in which mutations were negatively selected in MSI tumors. *Genes that are not investigated in the present study because mutations do not match with putative loss of function (RXFP1, SYCP1, RNASEH2B) or because gene silencing was not successful (CHD2). (C) Table of the 5 outlier mutations negatively selected in MSI tumors identified from exome sequencing data and investigated here by functional analysis. Four of the 5 genes have a literature-documented role that supports negative selection of their mutations because of the tumorigenic implication.