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 |