Table 1 The top genes that showed an excess of rare, non-silent variants in the NOA patients
Gene | BURDEN | FRQWGT | UNIQ | VT | Carrier frequency (%) | OR | Fisher P | |
|---|---|---|---|---|---|---|---|---|
Cases | Controls | |||||||
BRWD1 a | 7.4 × 10−4 | 9.9 × 10−4 | 2.7 × 10−3 | 1.5 × 10−3 | 7.27 | 4.09 | 1.84 | 0.01 |
PDGFC | 3.6 × 10−3 | 1.6 × 10−3 | -- | 3.8 × 10−3 | 2.51 | 0.71 | 3.62 | 0.007 |
ATF4 | 4.1 × 10−3 | 9.1 × 10−3 | -- | 7.9 × 10−3 | 2.64 | 0.85 | 3.18 | 0.01 |
LIMK2a | 6.7 × 10−3 | 8.1 × 10−3 | 4.1 × 10−2 | 9.5 × 10−3 | 3.43 | 1.13 | 3.11 | 0.005 |
ADORA1a | 7.5 × 10−3 | 7.0 × 10−3 | 1.5 × 10−2 | 2.2 × 10−2 | 1.72 | 0.42 | 4.11 | 0.02 |
CDA | 1.3 × 10−2 | 2.6 × 10−2 | 9.4 × 10−3 | 2.6 × 10−2 | 1.85 | 0.56 | 3.32 | 0.03 |
TSSK2a | 1.4 × 10−2 | 1.4 × 10−2 | 1.5 × 10−2 | 2.0 × 10−2 | 2.38 | 0.85 | 2.85 | 0.02 |
UBR2 a | 1.9 × 10−2 | 3.0 × 10−2 | -- | -- | 5.68 | 3.39 | 1.97 | 0.04 |
USP26 | 2.0 × 10−2 | 3.2 × 10−2 | 1.5 × 10−2 | 2.0 × 10−2 | 1.19 | 0.28 | 4.25 | 0.07 |
TCEB3B | 2.1 × 10−2 | 5.4 × 10−3 | -- | 3.4 × 10−2 | 7.00 | 4.37 | 1.65 | 0.03 |
RAD23Ba | 2.6 × 10−2 | 2.3 × 10−2 | -- | -- | 1.19 | 0.28 | 4.25 | 0.07 |
SOX9 | 2.8 × 10−2 | 1.9 × 10−2 | -- | 3.1 × 10−2 | 1.32 | 0.42 | 3.15 | 0.09 |
SLC19A2a | 3.3 × 10−2 | 2.6 × 10−2 | 1.9 × 10−2 | 4.7 × 10−2 | 1.32 | 0.42 | 3.15 | 0.09 |
VDRa | 4.5 × 10−2 | 2.1 × 10−2 | 2.9 × 10−2 | 1.1 × 10−2 | 1.45 | 0.56 | 2.60 | 0.12 |
SLC19A1a | -- | -- | 1.6 × 10−2 | -- | 1.85 | 0.99 | 1.89 | 0.19 |
CDKN1Ba | -- | -- | 4.9 × 10−3 | -- | 1.32 | 0.56 | 2.36 | 0.18 |
ETV5a | -- | -- | 2.3 × 10−2 | -- | 0.66 | 0.14 | 4.70 | 0.22 |
RNF17 a | -- | 4.5 × 10−2 | 1.4 × 10−2 | 2.2 × 10−2 | 3.70 | 2.54 | 1.47 | 0.23 |
DNMT3B | -- | -- | 2.5 × 10−2 | -- | 3.96 | 2.82 | 1.42 | 0.25 |
SULT1E1a | -- | -- | -- | 2.0 × 10−2 | 1.19 | 0.56 | 2.12 | 0.27 |
DNMT1 | -- | 3.9 × 10−2 | -- | 1.3 × 10−2 | 1.72 | 0.99 | 1.75 | 0.27 |
