Figure 4

Regions frequently targeted by somatic mutations overlapping cis-regulatory elements are enriched in promoters. A 1-kb-long window was slid with a 500-bp step along the human chromosomes and we recorded the number of overlapping mutations at each position. The corresponding histogram is given in the inner gray circles of the Circos plots where only positions containing at least three mutations have been retained. The y-axis range for the histograms is [0, 40] for (A) and (B) and [0, 80] for (C). The outer circles contain the names of the genes closest to the mutations in the considered windows if the mutation is at most 2 kb away from the TSS of the gene. Names highlighted in red correspond to genes shared between the analyses for the cohort 1 (A) and the cohort 2 (B) data sets. Genes highlighted in blue are specific to the analysis of the mutations when combining somatic mutations from the two cohorts. Analyses have been applied to the set of mutations from cohort 1 (A), cohort 2 (B) and both cohorts combined (C). TSS, transcription start site.