Table 1.
Transcription factor (TF) genes in the most reliable dosage-sensitive (MRDS) gene data set.
| TF family | Total number in human genome | Observed number of MRDS TFs | Expected number in this data set | BH-adjusted p |
|---|---|---|---|---|
| Nuclear receptor | 46 | 20 | 1.72 | 1.5 × 10−14 |
| Grainyhead | 6 | 4 | 0.22 | 6.0 × 10−4 |
| C2H2-ZF; Homeodomain | 4 | 3 | 0.15 | 0.002 |
| T-box | 17 | 5 | 0.64 | 0.003 |
| AP-2 | 5 | 3 | 0.19 | 0.004 |
| bHLH | 108 | 12 | 4.04 | 0.005 |
| RFX | 8 | 3 | 0.30 | 0.016 |
| Rel | 10 | 3 | 0.37 | 0.030 |
| Paired box | 4 | 2 | 0.15 | 0.040 |
| All TFs | 1,639 | 122 | 61.29 | 2.6 × 10−4 |
| Small-family TFs | ||||
| ≤5 members | 87 | 15 | 3.25 | 0.032 |
| ≤7 members | 126 | 23 | 4.71 | 0.004 |
| ≤9 members | 186 | 31 | 6.96 | 0.001 |
| ≤11 members | 238 | 37 | 8.90 | 5.9 × 10−4 |
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 MRDS genes were defined as the common dosage-sensitive genes among the four data sets obtained by Makino et al. (2013); Lek et al. (2016); Shihab et al. (2017)and Rice and McLysaght (2017b).