Fig. 5: Significant cis-eQTL effects of NUMTs. | Nature Communications

Fig. 5: Significant cis-eQTL effects of NUMTs.

From: A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA

Fig. 5: Significant cis-eQTL effects of NUMTs.The alternative text for this image may have been generated using AI.

a, d, g LocusZoom plots of regional eQTL association analyses for three NUMTs exhibiting dual QTL effects, including pannumt_14 and GNL2 (a), numt_353 and RASGRP3 (d), numt_310 and SMAD2 (g). Arrows indicate the direction of gene transcription. b, e, h Covariate-adjusted normalized expression residuals comparisons across NUMT genotypes (two-tailed Mann–Whitney U-test) for GNL2 (b), RASGRP3 (e), and SMAD2 (h). c, f, i Normalized expression comparisons across superpopulations (two-tailed Mann–Whitney U-test) for GNL2 (c), RASGRP3 (f), and SMAD2 (i). Sample sizes of each superpopulation: EAS (N = 141), AFR (N = 196), AMR (N = 113), EUR (N = 142), and SAS (N = 139). Box plots denote median and IQR, with whiskers 1.5×IQR. Source data are provided as a Source Data file.

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