Table 2.
Transcription factor (TF) genes in the most reliable dosage-insensitive (MRDIS) gene data set.
| TF family | Total number in human genome | Observed number of MRDS TFs | Expected number in this data set | BH-adjusted p |
|---|---|---|---|---|
| C2H2-ZF | 747 | 281 | 183 | 4 × 10−4 |
| Homeodomain | 196 | 15 | 48 | 0.001 |
| Nuclear receptor | 46 | 0 | 11 | 0.009 |
| CENPB | 11 | 8 | 2.7 | 0.010 |
| All TFs | 1,639 | 368 | 401 | 0.569 |
| Small-family TFs | ||||
| ≤5 members | 87 | 6 | 21 | 0.030 |
| ≤7 members | 126 | 8 | 31 | 0.004 |
| ≤9 members | 186 | 15 | 45 | 0.002 |
| ≤11 members | 238 | 27 | 58 | 0.009 |
The chi-square test (expected value > 5) and Fisher’s exact test (expected value ≤ 5) were used to test the overrepresentation or underrepresentation of the TF genes in this data set. The Benjamini-Hochberg (BH) procedure was used to compute the false discovery rate-adjusted p values. The MRDIS genes are the genes with pLI values < 0.5 in either the data set of Shihab et al. (2017)or the data set of Lek et al. (2016)that were not considered as dosage-sensitive genes in any of the four data sets obtained by Makino et al. (2013); Lek et al. (2016); Shihab et al. (2017)and Rice and McLysaght (2017b).