Gene-set enrichment analysis of transmitted truncating alleles and de novo variants in 20 high-functioning autism probands (130 genes)
| Gene set (n genes) | Observed (expected) | Empirical p value | Genes |
|---|---|---|---|
| Genes expressed in the postsynaptic density (1435)26 | 6 (9.9) | 0.95 | TBC1D24, UGP2, ADD3, CDH2, GRIN2B, LRP1* |
| Fragile X mental retardation protein target genes (835)27 | 4 (6.4) | 0.91 | GRIN2B, NPAS2, DIDO1, LRP1* |
| De novo variants found in autism (768)28 | 8 (7.2) | 0.43 | METTL16, GRIN2B, EFCAB5, CACNA1S, MUC17, UTP20, LRP1,* DNAH11 |
| De novo variants found in schizophrenia (694)29 | 9 (7.1) | 0.25 | ZNF551, FILIP1, IGSF22, CLTCL1, MYH7B, CACNA1S, MUC17, VPS13C, LRP1* |
↵* The recurrent gene LRP1.
The same analysis was performed in nontransmitted truncating alleles (128 genes; not significant).