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. Author manuscript; available in PMC: 2020 Mar 7.
Published in final edited form as: Cell. 2019 Feb 28;176(6):1325–1339.e22. doi: 10.1016/j.cell.2019.01.022

Figure 4. Tissue-specific mitochondrial heteroplasmic mutations.

Figure 4.

(A) Analysis overview. (B) Proportion of aligned reads that map to the mitochondrial genome for each tissue. (C) Mitochondrial genome coverage for different tissues. Inner circle: mitochondrial genome; middle circular tracks: mean coverage for heart (green), liver (blue), and blood (red); outer grey circle: genome coordinates. (D-G) Tissue-specific heteroplasmic mutations (> 3% heteroplasmy) in GTEx RNA-seq data. (D) Distribution along the mitochondrial genome. Inner circle: mitochondrial genome. Dots: % heteroplasmy of each tissue specific mutation; outer grey circle: genome coordinates. (E) Number of observed tissue-specific heteroplasmic mutations (y axis) in each class of mononucleotide and trinucleotide change. (F) Number of tissue-specific heteroplasmic mutations (y axis) at different allele frequency thresholds (x axis). (G) Number of tissue-specific heteroplasmic mutations (y axis) across the 10 tissues (x axis) with the largest number of tissue specific mutations in GTEx.