Extended Data Fig. 8: mtDNA mutations produce transcriptional phenotypes.
From: Respiratory complex and tissue lineage drive recurrent mutations in tumour mtDNA
a,b, Transcriptional dysregulation attributed to truncating (a) and VUS (b) mtDNA variants. Heatmaps shows directional significance of dysregulation of a given geneset in tumors with truncating or VUS mtDNA variants among the given cancer type; −log10(Q-value) > 2 indicates significant up-regulation in mutated compared to wild-type samples, < −2 indicates significant down-regulation. Histograms on the right show the number of wild-type samples and mutated samples used in calculating differentially expressed genes and dysregulated genesets. c, Difference in mtDNA mutation status between colorectal cancer consensus molecular subtypes. Left, the proportion of samples with wild-type mtDNA (that is no somatic mutations), VUS (any non-truncating) or truncating variants among colorectal tumors with each consensus molecular subtype (CMS) is shown. Right, histogram of the number of well-covered colorectal tumors. There was a statistically significant difference in mtDNA mutation status between different CMS classifications (P=0.03, Chi-squared test, n=415 samples total, error bars are 95% exact binomial confidence intervals).