. Author manuscript; available in PMC: 2014 Nov 19.

Published in final edited form as: Nature. 2014 Jan 22;506(7487):179–184. doi: 10.1038/nature12929

Extended Data Table 3.

Enrichment of de novo mutations in genes targeted by FMRP and conditional analysis of enrichment in postsynaptic density complexes. Enrichment was tested using dnenrich (Supplementary Text). Columns are as in Table 2, and p<0.05 are marked in bold.

	Mutations	Current study				SZ (Gulsuner)¹⁴				SZ (Xu)¹³				ASD^6-9				ID^10,11
		NS (482)		LoF (64)		NS (68)		LoF (12)		NS (137)		LoF (20)		NS (789)		LoF (134)		NS (141)		LoF (34)
Genes tested	# of genes	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut
FMRP targets (ALL)	784	0.0094	64	0.37	7	0.065	11	1	0	0.027	21	0.55	2	0.003	102	0.0003	26	2.00E-05	40	0.00068	10
FMRP targets not ARC complex	768	0.011	63	0.52	6	0.061	11	1	0	0.023	21	0.54	2	0.0046	100	0.00052	25	2.00E-05	35	0.0094	8
FMRP targets not NMDAR complex	753	0.016	61	0.67	5	0.055	11	1	0	0.062	19	0.84	1	0.0096	96	0.0004	25	2.00E-05	32	0.17	5
FMRP targets not ARC or NMDAR	745	0.014	61	0.67	5	0.053	11	1	0	0.059	19	0.84	1	0.012	95	0.00088	24	2.00E-05	31	0.35	4
FMRP targets excluding all PSD genes	615	0.02	51	0.68	4	0.037	10	1	0	0.12	15	0.77	1	0.013	80	0.0094	18	2.00E-05	29	0.22	4

ARC complex (ALL)	28	0.00048	6	0.005	2	1	0	1	0	1	0	1	0	0.22	3	0.22	1	2.00E-05	5	0.0015	2
ARC complex and FMRP target	16	0.46	1	0.068	1	1	0	1	0	1	0	1	0	0.26	2	0.14	1	2.00E-05	5	0.00084	2
ARC complex not FMRP targets	12	6.00E-05	5	0.045	1	1	0	1	0	1	0	1	0	0.47	1	1	0	1	0	1	0

NMDAR complex (ALL)	60	0.025	6	0.035	2	1	0	1	0	0.13	2	0.086	1	0.031	8	0.46	1	2.00E-05	8	2.00E-05	5
NMDAR complex and FMRP target	31	0.17	3	0.016	2	1	0	1	0	0.061	2	0.055	1	0.031	6	0.33	1	2.00E-05	8	2.00E-05	5
NMDAR complex not FMRP targets	29	0.04	3	1	0	1	0	1	0	1	0	1	0	0.36	2	1	0	1	0	1	0