Table 2.
Significant genes in TADA-R analysis of CHD case trios
| Gene | BF_LoF | BF_D-Mis | FDR | Jin (2017) | Annotation |
|---|---|---|---|---|---|
| CHD7 | 1.76E + 16 | 3.25E−01 | 0.001 | 1 | H-CHD |
| KMT2D | 3.97E + 16 | 2.52E + 13 | 0.001 | 2 | H-CHD |
| PTPN11 | 5.32E−01 | 1.24E + 17 | 0.001 | 3 | H-CHD |
| RBFOX2 | 1.63E + 04 | 1.87 | 0.001 | 6 | |
| GDF1 | 7.51E + 03 | 8.23E + 09 | 0.001 | H-CHD | |
| POGZ | 2.72E + 02 | 4.39 | 0.020 | 23 | |
| ACTB | 2.66E + 01 | 3.80E + 01 | 0.024 | H-CHD | |
| CYP21A2 | 3.56 | 7.13 | 0.059 | ||
| ADIPOQ | 5.11E-02 | 2.23E + 08 | 0.059 | ||
| NSD1 | 2.94E + 03 | 9.85E + 01 | 0.059 | 15 | H-CHD |
| SULF1 | 3.01E−02 | 2.26E + 14 | 0.059 | ||
| RPL5 | 7.79E + 03 | 1.12 | 0.059 | H-CHD | |
| AKAP12 | 1.49E + 02 | 8.47E−01 | 0.059 | ||
| NOTCH1 | 3.39E + 06 | 1.01E + 26 | 0.059 | 5 | H-CHD |
| SMAD2 | 1.39E + 02 | 9.12E + 02 | 0.096 | 19 |
TADA-R analysis was performed on 2,645 CHD case trios. Bayes factor values were computed separately for LoF and D-Mis variants (shown as BF_LoF and BF_D-Mis). We annotated significant genes on whether they are among the top 25 genes identified by Jin et al. or known human CHD genes (H-CHD).