AutismKB 2.0

Suggested Autism Candidate Gene List


We used 46 non-syndromic genes from the SPARK (Simons Foundation Powering Autism Research for Knowledge) gene list(please see the webpage) as the benchmark dataset. We excluded the syndromic gene according to the known sydromic gene list collected in AutismKB1.0 recommended by professionals.
Only the genes with total score larger than 16.
Notes:
SPARK (Simons Foundation Powering Autism Research for Knowledge) - PMID: 29420931(SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research, Neuron, 97, 488–493.)


Gene ID Gene Symbol Band Syndromic Autism Evidence Score Total Score
GWAS CNV Linkage Association Expression NGS de novo Mutation NGS Mosaic SNV NGS Other Low-Scale Gene Studies
AutG7337 UBE3A 15q11.2 Yes 0 2 0 1 1 0 0 1 1 25
AutG8216 LZTR1 22q11.21 No 0 1 1 0 0 2 0 0 0 24
AutG2555 GABRA2 4p12 No 0 1 0 1 0 2 0 0 0 24
AutG1845 DUSP3 17q21.31 No 0 1 0 1 0 2 0 0 0 24
AutG84231 TRAF7 16p13.3 No 0 1 1 0 0 2 0 0 0 24
AutG4908 NTF3 12p13.31 No 0 1 0 1 0 0 0 0 2 24
AutG9318 COPS2 15q21.2 No 0 1 1 0 0 2 0 0 0 24
AutG84239 ATP13A4 3q29 No 0 1 1 0 0 0 0 0 2 24
AutG57553 MICAL3 22q11.21 No 0 1 1 0 0 2 0 0 0 24
AutG154664 ABCA13 7p12.3 No 0 1 1 0 0 2 0 0 0 24
AutG91752 ZNF804A 2q32.1 No 0 1 1 0 0 2 0 0 0 24
AutG1814 DRD3 3q13.31 No 2 1 1 1 0 0 0 0 1 24
AutG5604 MAP2K1 15q22.31 Yes 0 1 0 0 2 2 0 0 0 24
AutG552 AVPR1A 12q14.2 No 0 0 0 2 0 0 0 0 2 24
AutG5080 PAX6 11p13 No 0 1 1 0 0 0 0 0 2 24
AutG718 C3 19p13.3 No 0 0 1 0 2 2 0 0 0 24
AutG10057 ABCC5 3q27.1 No 0 0 1 0 1 2 0 0 0 23
AutG775 CACNA1C 12p13.33 Yes 0 1 0 1 0 1 1 1 0 23
AutG43 ACHE 7q22.1 No 0 0 1 0 1 2 0 0 0 23
AutG338 APOB 2p24.1 No 0 0 1 0 1 2 0 0 0 23
AutG478 ATP1A3 19q13.2 No 0 1 0 0 1 2 0 0 0 23
AutG84059 ADGRV1 5q13 No 0 1 0 0 1 1 0 0 1 23
AutG2566 GABRG2 5q34 No 0 0 0 0 2 2 1 0 0 23
AutG4208 MEF2C 5q14.3 Yes 0 1 0 0 0 2 1 0 0 23
AutG3787 KCNS1 20q13.12 No 0 0 1 0 1 2 0 0 0 23
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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