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. Author manuscript; available in PMC: 2019 Jul 1.
Published in final edited form as: Nat Genet. 2018 Jun 11;50(7):1032–1040. doi: 10.1038/s41588-018-0130-z

Fig. 5.

Fig. 5.

dnMis mutations are enriched on protein interaction interfaces in developmental disorders. Enrichment was calculated by the ratio of the observed fraction of dnMis mutations that occur on interaction interfaces over the fraction of interface residues on corresponding proteins (expected fraction). Error bars indicate ± standard error. P-values were calculated using two-tail exact binomial test. DDD (Deciphering Developmental Disorders project, n = 2,914 dnMis mutations): Enrichment = 1.90 (1.76–2.04, 95% CI); ASD (autism spectrum disorder, n = 1,512): Enrichment = 1.80 (1.61–2.00, 95% CI); CHD (congenital heart disease, n = 759): Enrichment = 1.44 (1.21–1.70, 95% CI); ID (intellectual disability, n = 498): Enrichment = 2.09 (1.77–2.44, 95% CI); SCZ (schizophrenia, n = 312): Enrichment = 1.61 (1.22–2.06, 95% CI); EPL (epilepsy, n = 181): Enrichment = 1.88 (1.36–2.48, 95% CI); Hotspots (n = 31): Enrichment = 4.03 (2.51–5.58, 95% CI).