Table 3.
Top genes with sex-specific DNV enrichment
| Gene | Chr | Female DNVs (dnLGD/dnMIS) | Male DNVs (dnLGD/dnMIS) | Minimum P | Minimum q | Intersection FWER 5% significance |
|---|---|---|---|---|---|---|
| DDX3X | X | 117 (51/66) | 2 (0/2) | 1.95e–120 | 3.83e–116 | Female only |
| HDAC8 | X | 22 (11/11) | 0 (0/0) | 5.42e–24 | 4.11e–21 | Female only |
| PDHA1 | X | 19 (9/10) | 2 (0/2) | 1.09e–17 | 7.37e–15 | Female only |
| ZC4H2 | X | 7 (7/0) | 1 (0/1) | 5.06e–15 | 2.55e–12 | Female only |
| DNM1L | 12 | 11 (1/10) | 1 (0/1) | 3.18e–11 | 1.64e–8 | Female only |
| FBN1 | 15 | 9 (3/6) | 28 (7/21) | 1.22e–11 | 3.71e–9 | Male only |
| KMT2E | 7 | 3 (1/2) | 16 (9/7) | 1.79e–11 | 5.24e–9 | Male only |
| MBD5 | 2 | 3 (3/0) | 15 (11/4) | 5.81e–15 | 3.26e–12 | Male only |
| PSMC5 | 17 | 1 (0/1) | 10 (0/10) | 7.61e–12 | 2.38e–9 | Male only |
| WDR37 | 10 | 3 (0/3) | 10 (0/10) | 3.09e–10 | 1.77e–7 | Male only |
Independent DNV enrichment analysis was performed in female (n = 16,530) and male (n = 29,704) patients. This table shows the top 10 genes with evidence of sex-specific DNV enrichment in females and males. The significance thresholds (FDR 5% and FWER 5%) were corrected for multiple testing as in Table 1 males (FDR 5%, corrected for 20,000 genes using Benjamini-Hochberg method, two-sided Fisher’s exact test). Chr: chromosome.