Figure 3

Mutation profiles of the four adenomas. (A) From the outer to the inner circles, plots display the entire X chromosome, the intergenic (blue, approximately 15 Mbp) and genic (orange, approximately 2 Mbp) targeted sites, and the sequenced sites (green) in the four samples. Genomic regions were divided into 500 kbp bins and color gradient represents target (blue and orange) and coverage (green) density. The six concentric circles in each sample represent decreasing mutation frequencies, from 60% to 10%. Dots depict intergenic (blue), non-coding (yellow), synonymous (orange), and non-synonymous (red) somatic mutations. The three cancer genes [27]-[29] with non-synonymous mutations are also highlighted. (B) Mutation pattern of somatic mutations, SNPs, and the rest of mismatches in the four samples. The mutation profile of each adenoma shows the typical pattern of MMR-deficient colorectal tumors [30]. (C) Schematic representation of the functional domains of the GPR112 protein, with the non-synonymous mutation in sample A4 (red line) and the missense mutation previously reported in colorectal cancer (CRC) (R54X, red circle) [28]. (D) Electropherogram of the R48C mutation occurring in the pentaxin domain of GPR112 in sample A4.