Table 3.
Results of the gene-set enrichment analysis for the list of genes harboring germinal DNMs and PZMs (Spanish cohort).
| Gene-sets | p value | Observed mutations | Expected mutations | Analysis |
|---|---|---|---|---|
| SFARI genes | 1 × 10–6 | 49 | 20.9601 | Germinal |
| FMRP targets | 0.00013 | 39 | 20.9788 | Germinal |
| Genes involved in chromatin organization | 0.00018 | 24 | 10.7377 | Germinal |
| LoF intolerant genes | 0.0018 | 79 | 58.9156 | Germinal |
| Known ID genes | 0.0073 | 40 | 27.0286 | Germinal |
| Essential genes | 0.0709 | 49 | 39.968 | Germinal |
| CHD8 targets | 0.226 | 39 | 34.4983 | Germinal |
| mir137 targets | 0.3251 | 8 | 6.49354 | Germinal |
| Synaptic genes | 0.3592 | 14 | 12.4002 | Germinal |
| Genomic intervals surrounding known telencephalon genes scanned for enhancers | 0.5386 | 1 | 0.771873 | Germinal |
| Alelle biased genes in differentiating neurons | 0.6 | 12 | 12.502 | Germinal |
| CELF4 targets | 1 | 0 | 0.05078 | Germinal |
| mir128 targets | 1 | 0 | 0.022676 | Germinal |
| RBFOX targets | 1 | 0 | 0.055409 | Germinal |
| LoF intolerant genes | 0.0283 | 51 | 39.9973 | PZM |
| Genes involved in chromatin organization | 0.0625 | 12 | 7.28793 | PZM |
| FMRP targets | 0.0764 | 20 | 14.2422 | PZM |
| Sfari genes | 0.0764 | 20 | 14.2361 | PZM |
| CHD8 targets | 0.0884 | 30 | 23.4115 | PZM |
| Genomic intervals surrounding known telencephalon genes scanned for enhancers | 0.0977 | 2 | 0.524631 | PZM |
| Essential genes | 0.234 | 31 | 27.1352 | PZM |
| Synaptic genes | 0.3339 | 10 | 8.41702 | PZM |
| Known ID genes | 0.7554 | 16 | 18.3456 | PZM |
| mir137 targets | 0.8198 | 3 | 4.40692 | PZM |
| Alelle biased genes in differentiating neurons | 0.9727 | 4 | 8.48746 | PZM |
| CELF4 targets | 1 | 0 | 0.034487 | PZM |
| mir128 targets | 1 | 0 | 0.015316 | PZM |
| RBFOX targets | 1 | 0 | 0.037786 | PZM |