Fig. 5
Correlation of NFE2L2 mutations with a nearby high-Fst SNP in Asian patients. a Mutational distribution on NFE2L2 from all the WES samples. There are two major mutational hotspots. b Fst-index values of the SNPs on the exonic regions of NFE2L2, among which rs113671272, located in 5′UTR, shows the highest Fst index in the comparison between southern Han Chinese and European. c The gene regulation tracks from the UCSC genome browser show that rs113671272 is located within a region with high-density regulatory binding sites and high conservation scores. d The effect of the SNP rs113671272 on the mRNA expression level of NFE2L2 across 12 TCGA cancer types. After excluding tumor samples with somatic mutations in NFE2L2, the cancer types with at least three samples in the SNP-containing group were included in the analysis. The expression levels between the sample groups (with or without the SNP) across cancer types were compared with paired Wilcoxon signed-rank test. e Mutual exclusivity pattern of rs113671272 SNP and the somatic mutation status in the Asian WES samples with sufficient coverage. P-value was calculated by CoMEt algorithm
