NGS de novo Mutation Related Gene List
Gene ID | Gene Symbol | Band | Gene Name | #de novo Studies | Score |
---|---|---|---|---|---|
AutG154664 | ABCA13 | 7p12.3 | ATP-binding cassette, sub-family A (ABC1), member 13 | 2 | 2 |
AutG718 | C3 | 19p13.3 | complement component 3 | 2 | 2 |
AutG91752 | ZNF804A | 2q32.1 | zinc finger protein 804A | 2 | 2 |
AutG84231 | TRAF7 | 16p13.3 | TNF receptor-associated factor 7 | 2 | 2 |
AutG57553 | MICAL3 | 22q11.21 | microtubule associated monoxygenase, calponin and LIM domain containing 3 | 2 | 2 |
AutG1845 | DUSP3 | 17q21.31 | dual specificity phosphatase 3 | 2 | 2 |
AutG8216 | LZTR1 | 22q11.21 | leucine-zipper-like transcription regulator 1 | 2 | 2 |
AutG5604 | MAP2K1 | 15q22.31 | mitogen-activated protein kinase kinase 1 | 2 | 2 |
AutG43 | ACHE | 7q22.1 | acetylcholinesterase | 2 | 2 |
AutG338 | APOB | 2p24.1 | apolipoprotein B (including Ag(x) antigen) | 2 | 2 |
AutG478 | ATP1A3 | 19q13.2 | ATPase, Na+/K+ transporting, alpha 3 polypeptide | 2 | 2 |
AutG51168 | MYO15A | 17p11.2 | myosin XVA | 2 | 2 |
AutG3787 | KCNS1 | 20q13.12 | potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 | 2 | 2 |
AutG4208 | MEF2C | 5q14.3 | myocyte enhancer factor 2C | 2 | 2 |
AutG2566 | GABRG2 | 5q34 | gamma-aminobutyric acid (GABA) A receptor, gamma 2 | 2 | 2 |
AutG10057 | ABCC5 | 3q27.1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 5 | 2 | 2 |
AutG5976 | UPF1 | 19p13.11 | UPF1 regulator of nonsense transcripts homolog (yeast) | 2 | 2 |
AutG60 | ACTB | 7p22.1 | actin, beta | 2 | 2 |
AutG25942 | SIN3A | 15q24.2 | SIN3 homolog A, transcription regulator (yeast) | 2 | 2 |
AutG9656 | MDC1 | 6p21.33 | mediator of DNA-damage checkpoint 1 | 2 | 2 |