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. 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 4b.

Enrichment of de novo mutations (as calculated by dnenrich, see Supplementary Text) based on RNA-seq-based brain expression and developmental trajectory. Number and significance of overlap of mutations in schizophrenia, autism, and intellectual disability in genes not expressed in the brain, highly expressed in the brain, or with a pre- or postnatal expression bias in the brain (rows), based on BrainSpan RNA-seq data (see 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 ASD6-9 ID10,11
NS (482) LoF (64) NS (68) LoF (12) NS (137) LoF (20) NS (789) LoF (134) NS (141) LoF (34)
Brain expression? # of genes p # mut p # mut p # mut p # mut p # mut p # mut p # mut p # mut p # mut p # mut
Low 5851 0.89 118 0.97 11 0.48 19 0.17 5 0.31 40 0.44 6 0.99 185 1 22 1 23 1 2
High 9279 0.0058 264 0.016 40 0.45 34 0.57 6 0.12 74 0.34 11 2.00E-05 442 0.00018 86 6.00E-05 93 0.0007 26
Pre-natal 7962 0.33 225 0.39 32 0.74 29 0.97 3 0.2 68 0.65 9 0.00054 405 0.00024 83 0.35 67 0.21 19
Post-natal 2393 0.17 64 0.54 7 0.68 7 0.74 1 0.96 10 0.65 2 0.95 79 0.88 11 0.71 15 0.89 2