AutismKB 2.0

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
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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018