Figure 6
From: MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Proportion of exonic variants involved in aberrant mRNA processing for a set of tumor suppressor genes (71 genes) and a set of oncogenes (54 genes), from three different data sets (Inherited disease, somatic mutations in Cancer, and variants identified in the 1000 Genomes Project with no MAF filter applied, that is, all rare and common variants included). Disease-causing substitutions in tumor suppressor (TS) genes tend to be recessive loss-of-function mutations, in contrast to disease-causing substitutions in oncogenes, which are usually dominant gain-of-function mutations. Inherited disease and Cancer are significantly enriched in the TS gene set (denoted by an asterisk), when compared with the equivalent set of oncogenes, for mutations that are predicted to result in aberrant mRNA processing (SAVs). P-values were calculated using a Fisher’s exact test with a Bonferroni-corrected threshold of P < 0.05.