Fig. 3 | Nature Communications

Fig. 3

From: De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

Fig. 3The alternative text for this image may have been generated using AI.

Enrichment profiles for damaged cilia and chromatin genes in CHD probands. Five candidate gene lists, SysCilia (302), Cilia (669), FoxJ1 (116), CHD (402), and chromatin-modifying (163) genes were tested for enrichment in damaging genotypes using 2391 congenital heart disease trios. The number of damaged genes discovered in the 2391 probands for each candidate gene list (red arrows) is compared to the distribution of damaged genes found using random gene lists of equal size (blue distributions, 100,000 independent random gene lists per distribution). a, c SysCilia and Cilia genes are highly enriched for damaged recessively inherited genotypes. b, d SysCilia and Cilia genes show only modest enrichment in de novo mutations. e, f FoxJ1-responsive genes are also modestly enriched for recessive variation but not for de novo variation. g, i CHD and chromatin-modifying genes are only modestly enriched for damaging recessive genotypes. h, j In contrast to cilia genes, known CHD and chromatin-modifying genes are highly enriched for damaging de novo mutations. Burden-matched control genes (pink arrows) are not significantly enriched for any gene set. Housekeeping genes (green arrows) are depleted for damaging recessive variation and have a typical amount of damaging de novo variation. All p values are obtained by empirical permutation

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