Skip to main content
. Author manuscript; available in PMC: 2018 Apr 9.
Published in final edited form as: Nat Genet. 2017 Oct 9;49(11):1593–1601. doi: 10.1038/ng.3970

Figure 4. Chromatin modification genes and genes with multiple damaging de novo mutations are enriched for high expression in developing heart and intolerance to loss-of-function mutation.

Figure 4

(a) Enrichment of damaging mutations in chromatin modifiers in genes highly expressed in developing heart and intolerant to loss-of-function (LoF) mutation. X axis (0–100) denotes the percentile rank of heart expression in developing mouse heart at E14.5, and y axis (0–1.0) denotes intolerance to LoF mutation (pLI) in the ExAC database. (b) 66 genes with 2 or more damaging de novo mutations are plotted. Multihit genes are highly enriched (N=31) for genes that are highly expressed in developing heart and intolerant to LoF mutation (pLI ≥ 0.99).