Table 5 Gene ontology (GO) overrepresented terms for common CNVR (N = 2139)
PANTHER GO-Slim biological process | GO term | REFLIST (15,696) | Input (2994) | Expected | Fold enrichment | p-value |
|---|---|---|---|---|---|---|
Antigen processing and presentation | GO:0019882 | 39 | 22 | 7.44 | 2.96 | 1.10E−05* |
B cell mediated immunity | GO:0019724 | 80 | 29 | 15.26 | 1.90 | 1.08E−03 |
Fatty acid biosynthetic process | GO:0006633 | 31 | 11 | 5.91 | 1.86 | 3.90E−02 |
Cellular defense response | GO:0006968 | 165 | 58 | 31.47 | 1.84 | 1.29E−05* |
Chromosome segregation | GO:0007059 | 75 | 24 | 14.31 | 1.68 | 1.16E−02 |
Synaptic vesicle exocytosis | GO:0016079 | 62 | 19 | 11.83 | 1.61 | 3.29E−02 |
Chromatin organization | GO:0006325 | 165 | 47 | 31.47 | 1.49 | 5.52E−03 |