Fig. 4 | European Journal of Human Genetics

Fig. 4

From: Skewed X-inactivation is common in the general female population

Fig. 4

Assessment of escape from X-inactivation. Histogram of the skew factor for the entire X-chromosome (black bars) and for specific example genes (gray bars) in all skewed individuals (one bar for each individual) with coverage ≥10 on heterozygous SNVs in those genes. A one-sided test was used to test whether the ratios for a given gene were significantly different from the median ratio for the entire X-chromosome. In a, b, two “known” escapee genes: [14, 20,21,22,23] PUDP (ENSG00000130021) appears to escape X-inactivation, whereas TRAPPC2 (ENSG00000196459) does not. In cg, several genes not known to escape X-inactivation: c TFE3 (ENSG00000068323) does not escape X-inactivation (in line with the literature), whereas SSR4 (ENSG00000180879), REPS2 (ENSG00000169891), and SEPT6 (ENSG00000125354) were identified to escape X-inactivation for the first time in our study. g GAPDH65 (ENSG00000235587) was found to be significant, but is a pseudogene and a likely false-positive gene due to inaccurate read mapping

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