Gene | This study | ASD virulence gene | ASD-related gene | Mental disease-related gene | Developmental disease-related gene | Combined* | References | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Lof | Mis | Lof | Mis | CNV | N/Y | Lof | Mis | CNV | N/Y | Lof | Mis | CNV | N/Y | Lof | Mis | CNV | N/Y | Lof/Mis/CNV | (ALL diseases) | |
Recurrent in this study | ||||||||||||||||||||
NOTCH1 | 0 | 2 | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 2 | [17] |
Recurrent in reported database | ||||||||||||||||||||
CACNA1A | 1 | 0 | 1 | 0 | 0 | Y | 0 | 1 | 0 | Y | 0 | 0 | 0 | Y | 0 | 2 | 0 | Y | 4 | |
CHRM3 | 0 | 1 | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 0 | 0 | 1 | Y | 0 | 0 | 0 | Y | 1 | |
CNOT3 | 0 | 1 | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 1 | |
EPHA6 | 0 | 1 | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 1 | [22] |
CDH2 | 0 | 1 | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | |
KIF5C | 0 | 1 | 0 | 0 | 0 | N | 0 | 1 | 0 | Y | 0 | 0 | 0 | N | 0 | 1 | 0 | Y | 3 | [32] |
KIF1A | 0 | 1 | 0 | 0 | 0 | N | 0 | 1 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 2 | [33] |
IKZF4 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 1 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 2 | [34] |
SEC31B | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [35] |
LMO7 | 1 | 0 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [36] |
MYCBP2 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [37] |
PALM2 | 1 | 0 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [38] |
ALG9 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [39] |
WDTC1 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [40] |
UBR4 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | |
MKL1 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [43] |
CREB5 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [44] |
AOX1 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [45] |
TLE3 | 1 | 0 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [46] |
ARID5B | 1 | 0 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | [47] |
PHACTR3 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 1 | dbGaP$: phs000267.v5.p2 (NIMH Autism Genome Project) |
HOMER2 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 1 | [48]; OMIM616707 |
XPNPEP1 | 1 | 0 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | [49] |
PTPRM | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 1 | Y | 0 | 0 | 0 | N | 2 | [50] |
MFAP1 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 1 | Y | 0 | 0 | 0 | N | 2 | [51] |
SEC31A | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 1 | 0 | Y | 0 | 0 | 0 | N | 2 | [52] |
MASP1 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 1 | [53] |
CFH | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | [54] |
YWHAQ | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | [55] |
MGAT4A | 1 | 0 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | [56] |
TMEM8B | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | [57] |
ABCA5 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | [58] |
LYST | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | Y | 1 | [59]; OMIM214500 |
POU2F2 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | [60] |
NOL6 | 0 | 1 | 0 | 0 | 0 | N | 0 | 0 | 0 | N | 0 | 0 | 0 | Y | 0 | 0 | 0 | N | 1 | MCID#: ATS383 MIFTS: 37 |