Fig. 1: Single nucleotide variants (SNVs) and invariant sites across mitochondrial DNA. | Nature Communications

Fig. 1: Single nucleotide variants (SNVs) and invariant sites across mitochondrial DNA.

From: Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

Fig. 1

Circos plot tracks from outer (Track 1) to inner (Track 4): Track 1 is all synonymous and non-coding (tRNA, rRNA and D-loop) heteroplasmic sites. Track 2 is all nonsynonymous and nonsense heteroplasmic SNVs, where nonsense heteroplasmic SNVs are colored in red. The Y-axis of Tracks 1 and 2 is the log(number of participants with a heteroplasmy + 1), scaled from 0 to 9. Track 3 is positions with no heteroplasmy. Three or more adjacent null positions are colored light gray, 2 adjacent positions are colored medium gray, and singlets are colored dark gray. The height of Track 3 bars is scaled by color, light gray is the lowest, followed by medium gray, then dark gray. Innermost track (Track 4) is gene annotations. Genes are colored similarly by complex or by gene type. Source data are provided as a Source Data file.

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