Table 3. Enrichment of de novo mutations in postsynaptic protein complexes.

Statistical significance for enrichment of de novo mutations in glutamatergic postsynaptic gene sets²⁰. Nominally significant p-values (<0.05), as calculated by dnenrich (see Supplementary Text), are marked in bold. # mut = mutation counts in each set. O/E = observed-to-expected ratio of mutational hits (fold-enrichment statistic) calculated by dnenrich. Samples and classes of mutations are as Table 2. Total numbers of mutations for each class in each sample are given in parentheses. Additional details for the current study, including genes and 95% credible intervals (CI) for the O/E statistics, are given in Extended Data Figure 4.

		Current study						Schizophrenia (ref. 14)		Schizophrenia (ref. 13)		Schizophrenia all (refs 12–14)		Autism spectrum disorder6-9		Intellectual disability10,11
		Nonsynonymous (482)			Loss-of-function (64)			Nonsynonymous (68)	Loss-of-function (12)	Nonsynonymous (137)	LoF (20)	Nonsynonymous (702)	Loss-of-function (100)	Nonsynonymous (789)	Loss-of-function (134)	Nonsynonymous (141)	Loss-of-function (34)
Gene set	genes (N)	P	No. mut.	O/E	P	# mut	O/E	P	P	P	P	P	P	P	P	P	P
Postsynaptic density	681	0.019	34	1.46	0.091	6	1.92	0.84	0.45	0.65	0.64	0.091	0.12	0.47	0.064	0.0015	4.00E-05
ARC complex	28	0.00048	6	6.06	0.005	2	17.42	1	1	1	1	0.0035	0.015	0.22	0.22	2.00E-05	0.0015
NMDAR complex	60	0.025	6	2.74	0.035	2	6.99	1	1	0.13	0.086	0.016	0.011	0.031	0.46	2.00E-05	2.00E-05