Figure 2
A somatic mutation with signatures of potential duon mutation in TP53.
(A) Location of the pDM (Chr17:7578457:C > A) in the coding region of TP53 is shown. (B) Summary diagram showing base by base Phastcons evolutionary conservation, predicted transcription factor (E2F; HINFP1) binding motif and overlap with DNase hypersensitivity sites in multiple ENCODE cell lines. (C) Actionable driver mutations in the samples that have the TP53 pDM in lung cancer. Blue: point mutation, red: amplification, green: deletion. (D) Presence of the pDM in different cancer types. (E) Allelic frequency estimates of the TP53 pDM in different cancer shows that it is predominantly clonal in majority of the cases. Plot represents mean allelic frequency per cancer type with 95% CI of mean as error bars. (F) Beanplot showing TP53 mRNA level expression of the samples carrying p.R158L pDM, compared to other samples that are wild type at that site for lung squamous cell carcinoma and adenocarcinoma. Statistical significance was estimated using Mann Whitney U test and combined p-value estimated using Fisher’s method. (G) Allelic mRNA expression pattern at the site of mutation showed allelic imbalance: the A allele had relatively higher expression than the C allele in all the mutated samples. Plot represents mean allelic mRNA expression per cancer type with 95% CI of mean as error bars.
