AutismKB 2.0

NGS de novo Mutation Related Gene List


Gene ID Gene Symbol Band Gene Name #de novo Studies Score
AutG5728 PTEN 10q23.31 phosphatase and tensin homolog 3 3
AutG9378 NRXN1 2p16.3 neurexin 1 4 3
AutG57680 CHD8 14q11.2 chromodomain helicase DNA binding protein 8 4 3
AutG6326 SCN2A 2q24.3 sodium channel, voltage-gated, type II, alpha subunit 4 3
AutG1106 CHD2 15q26.1 chromodomain helicase DNA binding protein 2 5 3
AutG2904 GRIN2B 12p13.1 glutamate receptor, ionotropic, N-methyl D-aspartate 2B 3 3
AutG288 ANK3 10q21.2 ankyrin 3, node of Ranvier (ankyrin G) 3 3
AutG57496 MKL2 16p13.12 MKL/myocardin-like 2 3 3
AutG26058 GIGYF2 2q37.1 GRB10 interacting GYF protein 2 3 3
AutG10319 LAMC3 9q34.12 laminin, gamma 3 4 3
AutG23304 UBR2 6p21.1 ubiquitin protein ligase E3 component n-recognin 2 3 3
AutG6529 SLC6A1 3p25.3 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 4 3
AutG6540 SLC6A13 12p13.33 solute carrier family 6 (neurotransmitter transporter, GABA), member 13 3 3
AutG287 ANK2 4q25-q26 ankyrin 2, neuronal 3 3
AutG84623 KIRREL3 11q24.2 kin of IRRE like 3 (Drosophila) 3 3
AutG1105 CHD1 5q15-q21.1 chromodomain helicase DNA binding protein 1 3 3
AutG343450 KCNT2 1q31.3 potassium channel, subfamily T, member 2 3 3
AutG10716 TBR1 2q24.2 T-box, brain, 1 4 3
AutG5649 RELN 7q22.1 reelin 2 2
AutG85358 SHANK3 22q13.33 SH3 and multiple ankyrin repeat domains 3 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