Table 2: Gene Ontology (GO) analysis.
GO terms for biological processes that are significantly associated both with IQSEC2 and with genes involved in the Rett Angelman spectrum including: CDKL5, FOXG1, MECP2, NRXN1, TCF4, ZEB2, CNTNAP2, MBD5, MEF2C, SLC9A6 and UBE3A.
| GO Term | ID | Background frequency |
Sample frequency |
Expected | +/− enriched |
P-value |
|---|---|---|---|---|---|---|
| Single-organism process | GO:0044699 | 12164 | 12 | 6.695 | + | 0.02636 |
| Regulation of biological process | GO:0050789 | 9875 | 11 | 5.435 | + | 0.03347 |
| Regulation of cellular process | GO:0050794 | 9486 | 11 | 5.221 | + | 0.02211 |
| Positive regulation of biological process | GO:0048518 | 4686 | 9 | 2.579 | + | 0.00328 |
| Localization | GO:0051179 | 4405 | 9 | 2.424 | + | 0.00196 |
| Positive regulation of cellular process | GO:0048522 | 4232 | 9 | 2.329 | + | 0.00140 |
| Regulation of cell communication | GO:0010646 | 2692 | 9 | 1.482 | + | 0.00003 |
| Regulation of signaling | GO:0023051 | 2680 | 9 | 1.475 | + | 0.00003 |
| Cellular component organization or biogenesis | GO:0071840 | 4569 | 8 | 2.515 | + | 0.02349 |
| Cellular component organization | GO:0016043 | 4449 | 8 | 2.449 | + | 0.01944 |
| Regulation of signal transduction | GO:0009966 | 2398 | 8 | 1.32 | + | 0.00020 |
| Regulation of response to stimulus | GO:0048583 | 3113 | 8 | 1.713 | + | 0.00144 |
| Regulation of nucleobase-containing compound metabolic process | GO:0019219 | 4196 | 8 | 2.309 | + | 0.01279 |
| Regulation of nitrogen compound metabolic process | GO:0051171 | 4292 | 8 | 2.362 | + | 0.01504 |
| Positive regulation of metabolic process | GO:0009893 | 3059 | 7 | 1.684 | + | 0.01281 |
| Positive regulation of cellular metabolic process | GO:0031325 | 2849 | 7 | 1.568 | + | 0.00816 |
| Positive regulation of nucleobase-containing compound metabolic process | GO:0045935 | 1915 | 7 | 1.054 | + | 0.00062 |
| Positive regulation of nitrogen compound metabolic process | GO:0051173 | 1943 | 7 | 1.069 | + | 0.00068 |
| Regulation of intracellular signal transduction | GO:1902531 | 1494 | 5 | 0.8222 | + | 0.02304 |
GO terms are organized hierarchically with more general processes at the top and more specific processes at the bottom of the table. Hypergeometric tests were performed of the null hypothesis that the frequencies of the term-by-gene associations were due to chance alone. All P-values were Bonferroni-corrected for multiple comparisons. All of the significant terms were associated with more of the genes than would be expected by chance (+) as opposed to fewer (−). The analysis utilized Panther 9.0 (Mi et al. 2013) and GO database release 2013-08-09 (Ashburner et al. 2000).