. 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 4a. Brain expression biases of genes impacted by de novo mutations.

Enrichment of de novo mutations (as calculated by dnenrich, see Supplementary Text) falling in genes with pre- or postnatal brain expression bias. Number and significance of overlap of mutations in schizophrenia, autism, and intellectual disability in genes with no brain expression bias, or with a preor postnatal expression bias in the brain, based on HBT data as used in Xu, et al.¹³ (see Supplementary Text), for two brain regions; HPC = hippocampus, PFC = prefrontal cortex. 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)
Brain region	Expression bias?	# of genes	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut	p	# mut
	none	5373	0.72	106	0.1	19	0.72	14	0.52	3	0.41	33	0.48	5	0.36	186	0.54	30	0.95	25	0.8	6
HPC	pre-natal	6444	0.45	175	0.81	22	0.12	30	0.91	3	0.32	53	0.52	8	0.00028	332	0.021	63	0.14	57	0.21	16
	post-natal	7299	0.13	196	0.63	22	0.78	23	0.21	6	0.82	47	0.44	8	1	258	0.99	37	0.33	57	0.57	12

	none	4997	0.36	104	0.41	14	0.99	7	0.72	2	0.9	23	0.94	2	0.92	149	0.89	22	0.89	24	0.71	6
PFC	pre-natal	6266	0.44	174	0.52	25	0.071	31	0.54	5	0.18	55	0.34	9	6.00E-05	333	0.00084	69	0.052	60	0.2	16
	post-natal	7853	0.34	200	0.59	24	0.37	29	0.5	5	0.59	54	0.35	9	0.97	294	0.99	39	0.68	55	0.69	12