Fig. 3

Mutational enrichment at transcription start sites associates with mRNA abundance of target genes and diverse pathways. a Comparison of mutation frequencies in TSSs and tissue-specific open-chromatin sites grouped by mRNA abundance of target genes in matching tumours (FDR < 0.05). Equal numbers of sites were sampled for an unbiased comparison. b Examples of cancer types with strong transcription-associated mutagenesis in TSSs (top) compared to open-chromatin sites (bottom). Mutation frequencies are shown on the Y-axis with loess smoothing. c Median mRNA abundance of genes in the five bins. d Enrichment map of pathways and processes with frequent mutations at TSSs (FDR < 0.05). Nodes represent pathways and processes that are connected with edges if these include many common genes