Table 1 Prioritized ASD candidate genes
Gene | ASD.LGD | Seq.Quality | MIS.sig | CLIN.sig | MIP-targets | FMRP/RBFOX | RVIS% | pLI score |
|---|---|---|---|---|---|---|---|---|
ATP1A1 | 1SP | validated | – | – | Yes | Both | 5.00 | 1.00 |
CUX2 | 1SG | highConf | – | – | Yes | F | 9.20 | 1.00 |
DSCAML1 | 1SP | validated | – | – | Yes | F | 0.67 | 1.00 |
ELAVL2 | 1FS | validated | – | – | Yes | R | 15.85 | 0.96 |
FAM91A1 | 1SG | validated | – | – | Yes | F | 21.65 | 0.88 |
FBXW11 | 1SG | validated | – | – | Yes | R | 20.08 | 1.00 |
RAPGEF4 | 1SP | highConf | – | – | Yes | Both | 9.59 | 1.00 |
SMARCE1 | 1SP | highConf | – | Y(LGD) | Yes | R | 23.48 | 1.00 |
SPTBN1 | 1SG | validated | – | – | Yes | F | 0.17 | 1.00 |
TANC2 | 1SG | validated | – | – | Yes | Both | 0.37 | 1.00 |
UBAP2L | 1FS | highConf | – | – | Yes | F | 3.33 | 1.00 |
UBR3 | 1FS | validated | – | – | Yes | Both | - | 1.00 |
UBR5 | 1FS | highConf | – | – | Yes | Both | 0.21 | 1.00 |
ZNF462 | 1FS | highConf | – | Y(LGD) | Yes | F | 1.09 | 1.00 |
BRSK2 | 1SP | highConf | – | – | – | Both | 4.95 | 0.89 |
DST | 1FS | validated | – | – | – | Both | 0.28 | 1.00 |
EP400 | 1FS | highConf | – | – | – | Both | 7.32 | 1.00 |
GRIN2B | 1FS,1SG,1SP | validated | Y | Y(LGD,MIS) | – | Both | 1.28 | 1.00 |
NBEA | 1SG | validated | – | – | – | Both | 1.16 | 1.00 |
NCKAP1 | 1FS,1SG | validated | – | – | – | Both | 3.85 | 1.00 |
NRXN1 | 1SG | validated | – | – | – | Both | 1.78 | 1.00 |
SKI | 1SG | highConf | – | – | – | Both | 11.79 | 0.97 |
SPAG9 | 1FS | validated | – | – | – | Both | 14.41 | 1.00 |
TRIM37 | 1SP | highConf | – | – | – | Both | 5.31 | 1.00 |
BAI1 | 1SG | validated | – | – | – | F | – | 1.00 |
BIRC6 | 1SG | highConf | – | – | – | F | 0.07 | 1.00 |
CIC | 1SG | validated | – | Y(LGD) | – | F | 0.83 | 1.00 |
DIP2A | 1SG,1FS | validated | – | – | – | F | 8.68 | 1.00 |
DIP2C | 1FS | validated | – | – | – | F | 0.61 | 1.00 |
DOT1L | 1SG | validated | – | – | – | F | 2.18 | 1.00 |
KDM4B | 1SG | highConf | – | – | – | F | 13.00 | 1.00 |
KIAA0100 | 1SG | validated | – | – | – | F | 2.12 | 0.92 |
KIAA2018 | 1SG | highConf | – | – | – | F | – | 1.00 |
NF1 | 1SG | validated | – | Y(LGD) | – | F | 0.39 | 1.00 |
RALGAPB | 1FS | highConf | – | – | – | F | 3.00 | 1.00 |
RELN | 1SG | highConf | – | – | – | F | 5.17 | 1.00 |
SHANK2 | 1FS | validated | – | – | – | F | 2.03 | 1.00 |
SMARCC2 | 1SP | validated | – | – | – | F | 8.51 | 1.00 |
STXBP5 | 1FS | highConf | – | – | – | F | 4.70 | 1.00 |
TRIO | 1FS | highConf | Y | – | – | F | 0.57 | 1.00 |
BAZ2B | 1FS | validated | – | – | – | R | 13.09 | 1.00 |
BRWD1 | 1FS | validated | – | – | – | R | 10.52 | 1.00 |
CSDE1 | 1SG | validated | – | – | – | R | 6.18 | 1.00 |
CUL1 | 1SP | highConf | – | – | – | R | 9.85 | 1.00 |
ERBB2IP | 1SP | highConf | – | – | – | R | – | 1.00 |
GABRB3 | 1FS | highConf | Y | – | R | 25.36 | 1.00 | |
GGNBP2 | 1SG | highConf | – | – | – | R | 27.26 | 1.00 |
GRIA2 | 1SG | highConf | – | – | – | R | 10.77 | 1.00 |
HECTD1 | 1FS | validated | – | – | – | R | 0.45 | 1.00 |
MPP6 | 1SP | validated | – | – | – | R | 26.90 | 0.99 |
NFIA | 1SG | validated | – | – | – | R | 18.59 | 1.00 |
NFIB | 1SP | validated | – | – | – | R | 16.62 | 0.98 |
PCSK2 | 1FS | validated | – | – | – | R | 19.29 | 1.00 |
PRPF40A | 1SP | highConf | – | – | – | R | 8.28 | 0.88 |
RANBP2 | 1FS | highConf | – | – | – | R | 1.77 | 1.00 |
UNC79 | 1FS | validated | – | – | – | R | 1.27 | 1.00 |
XKR6 | 1SG | validated | – | – | – | R | 16.93 | 1.00 |
YTHDC1 | 1FS | validated | – | – | – | R | 18.25 | 1.00 |
