Fig. 4

Regulatory pattern of DNA mutation and methylation on AASE in LUAD. a Box plot showing the ES event of TP53 were regulated by the splice site mutation of TP53. b Overview of the trans-sQTLs. The x-axis indicates the mutation positions and the y-axis indicates the splice sites across chromosomes. Bars vertical to the x-axis summarize the number of trans-sQTLs in each chromosome and bars parallel to the x-axis summarize the regulated ASEs within each chromosome. c Schematic plot showing the boundary regions of alternative exons. d Volcano plot showing the differential methylated CpG sites within the boundary regions of alternative exons in LUAD. e Summary of the 21 differentially methylated CpG sites that regulated their corresponding AS events. The X-axis represents the position of CpG sites across chromosomes and the Y-axis indicates the significance of correlation coefficients between CpG sites and corresponding ASEs. Red and blue dots stand for highly and lowly methylated CpG sites in LUAD, respectively. Ellipse indicates a positive (orange) or negative (blue) relationship between methylated levels of the CpG sites and the inclusion rate of corresponded alternative exons. f The number of seven types of AASEs regulated by methylated CpG sites across 30 cancer types. g The number of AP events positively (red) and negatively (blue) regulated by methylated CpG sites across 30 cancer types. h Bar plot showing the number of methylated CpG sites that regulated AP events in promoter regions, gene body regions, and intergenic regions (IGR) across 30 cancer types