Figure 4
A somatic mutation with signatures of potential duon mutation in SF3B1.
(A) Location of the pDM (Chr2:198266834:T > C) in the coding region of SF3B1 is shown. (B) Summary diagram showing base-by-base Phastcons evolutionary conservation and predicted transcription factor (HSF1) binding motif. (C) Presence of the pDM in in different cancer types. (D) Beanplot showing SF3B1 mRNA level expression of the samples carrying p.K700E pDM, compared to other samples that are wild type at that site in the breast cancer cohort. Statistical significance was estimated using Mann Whitney U test, P-value = 0.03. (G) Frequency of mutant allele at DNA and RNA levels determined by exome-seq and RNA-seq respectively in breast cancer samples. Plot represents mean allelic frequency for mutant allele with 95% CI of mean as error bars.
