Table 1.
Results of burden test with gene set in SynGO.
| GO_terms | Ontology domain | Number of genes | MAC_Burden | Mean_case | Mean_ctrl | P-value | Q-value |
|---|---|---|---|---|---|---|---|
| Trans-synaptic signaling (GO:0099537) | BPa | 185 | 84 | 0.19 | 0.09 | 0.00044 | 0.060 |
| Synaptic signaling (GO:0099536) | BP | 193 | 86 | 0.19 | 0.10 | 0.00072 | 0.060 |
| Synapse organization (GO:0050808) | BP | 306 | 144 | 0.30 | 0.18 | 0.0049 | 0.21 |
| Postsynaptic cytoskeleton organization (GO:0099188) | BP | 26 | 20 | 0.056 | 0.01 | 0.0070 | 0.21 |
| Chemical synaptic transmission (GO:0007268) | BP | 160 | 63 | 0.13 | 0.08 | 0.0098 | 0.21 |
| Process in the synapse | BP | 879 | 355 | 0.67 | 0.52 | 0.012 | 0.21 |
| Modulation of chemical synaptic transmission (GO:0050804) | BP | 90 | 33 | 0.073 | 0.04 | 0.012 | 0.21 |
| Regulation of synapse organization (GO:0050807) | BP | 29 | 13 | 0.037 | 0.01 | 0.014 | 0.21 |
| Postsynapse (GO:0098794) | CC | 624 | 232 | 0.45 | 0.33 | 0.014 | 0.21 |
| Maintenance of synapse structure (GO:0099558) | BP | 18 | 13 | 0.037 | 0.0068 | 0.015 | 0.21 |
| Retrograde trans-synaptic signaling by trans-synaptic protein complex (GO:0098942) | BP | 7 | 13 | 0.037 | 0.0068 | 0.015 | 0.21 |
| Trans-synaptic signaling by trans-synaptic complex (GO:0099545) | BP | 12 | 17 | 0.047 | 0.010 | 0.017 | 0.21 |
| Postsynaptic density, intracellular component (GO:0099092) | CC | 42 | 14 | 0.040 | 0.0068 | 0.018 | 0.21 |
| Postsynaptic density assembly (GO:0097107) | BP | 19 | 9 | 0.027 | 0.0034 | 0.023 | 0.23 |
| Regulation of postsynaptic density assembly (GO:0099151) | BP | 14 | 9 | 0.027 | 0.0034 | 0.023 | 0.23 |
| Synapse assembly (GO:0007416) | BP | 93 | 42 | 0.10 | 0.041 | 0.024 | 0.23 |
| Regulation of synapse assembly (GO:0051963) | BP | 50 | 22 | 0.056 | 0.017 | 0.026 | 0.23 |
| Synapse (GO:0045202) | CC | 1089 | 419 | 0.77 | 0.632 | 0.027 | 0.23 |
| Postsynaptic specialization assembly (GO:0098698) | BP | 32 | 17 | 0.043 | 0.014 | 0.030 | 0.25 |
| Postsynaptic actin cytoskeleton organization (GO:0098974) | BP | 22 | 13 | 0.037 | 0.0068 | 0.041 | 0.32 |
Note. BP biological process, CC cellular component, Number of Genes number of genes in each GO_term, MAC_Burden number of allele counts used for the burden analysis, mean_case mean number of variants in one case, mean_ctrl mean number of variants in one healthy control.