Fig. 4: MapUTR identifies functional variants in cancer driver genes.

a Gene ontology terms enriched in the genes with large-effect functional variants (top 500) in HEK293 and HeLa. Top 10 terms were plotted. b Disease associations most represented by MapUTR functional variants. Top 10 diseases were plotted. c Cancer driver genes containing MapUTR functional variants. For genes with multiple functional variants, the variant with the largest absolute relative activity was plotted in each cell line. d Relative activity scores and FDR of all cancer-related variants (COSMIC somatic mutations) tested in HeLa. e Top: Proportion of functional variants identified for cancer driver genes with at least 100 tested variants. The number on top of each bar denotes the number of variants tested for each gene. Bottom: Distribution of relative activity scores for oncogenes and tumor suppressor genes (TSGs) in the top panel. Boxplots depict the median as the center line, the boxes define the interquartile range (IQR: 25th to 75th percentiles) and the whiskers extend up to 1.5 times the IQR. f Changes in RBP binding caused by functional variants in cancer driver genes were significantly higher than expected. P-values were calculated using a two-sided Kolmogorov–Smirnov test. g Many functional variants in the 3′ UTR of the tumor suppressor gene CDKN2A decreased RNA abundance, indicating the potential for a cancerous outcome. Motif matches are denoted as triangles, with the specific motifs highlighted in different colors. Genomic positions (hg19) are shown on the x-axis. h Allele frequency (somatic) of down-regulating functional variants of CDKN2A in different cancers. The average allele frequency of all 3′ UTR somatic mutations in each cancer is indicated as a light gray bar. A variant is labeled as a driver if it was found in other driver mutation databases. a–h Source data are provided as a Source Data file.