Figure 6: Patients harbouring the same gene mutations but with variations in trans-associated gene expression.
From: Systematic analysis of somatic mutations impacting gene expression in 12 tumour types
(a) In UCEC, CTNNB1 mutations correlated with the upregulation of a set of genes, and downregulation of another set of genes. The most extreme upregulated genes included BMP4 (in TGF-β signalling pathway), NKD1, AXIN2, DKK4 and KREMEN1 (in Wnt signalling pathway). The downregulated genes included Wnt signalling pathway gene FZD5. Here red colour in the heatmap represents gene upregulation and blue colour represents gene downregulation. (b) The smallest unimodality dip-test P values of P(F) of the 127 significantly mutated genes across tumour types. (c) The mutation sites, mutation types and P(F) (filled colours) of CTNNB1 mutations (d) and RB1 mutations in UCEC. MSI, microsatellite instability; MSS microsatellite stable; MSI-H, MSI-high; MSI-L, MSI-low; TGF-β, transforming growth factor-beta.
