Table 2

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 valueGenes
Genes expressed in the postsynaptic density (1435)266 (9.9)0.95TBC1D24, UGP2, ADD3, CDH2, GRIN2B, LRP1*
Fragile X mental retardation protein target genes (835)274 (6.4)0.91GRIN2B, NPAS2, DIDO1, LRP1*
De novo variants found in autism (768)288 (7.2)0.43METTL16, GRIN2B, EFCAB5, CACNA1S, MUC17, UTP20, LRP1,* DNAH11
De novo variants found in schizophrenia (694)299 (7.1)0.25ZNF551, 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).