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
AutG51168 MYO15A 17p11.2 No 0 1 0 0 0 2 1 0 0 23
AutG64101 LRRC4 7q32.1 No 0 0 1 0 0 2 0 0 0 22
AutG8295 TRRAP 7q22.1 No 0 0 1 0 0 2 0 0 0 22
AutG2131 EXT1 8q24.11 No 0 0 0 0 0 1 2 0 1 22
AutG146760 RTN4RL1 17p13.3 No 0 1 0 0 0 2 0 0 0 22
AutG10347 ABCA7 19p13.3 No 0 0 1 0 0 1 0 0 1 22
AutG22997 IGSF9B 11q25 No 0 1 0 0 0 2 0 0 0 22
AutG60 ACTB 7p22.1 No 0 1 0 0 0 2 0 0 0 22
AutG55209 SETD5 3p25.3 No 0 0 1 0 0 2 0 0 0 22
AutG6340 SCNN1G 16p12.2 No 0 1 0 0 0 2 0 0 0 22
AutG57555 NLGN2 17p13.1 No 0 0 1 0 0 2 0 0 0 22
AutG55262 C7orf43 7q22.1 No 0 0 1 0 0 2 0 0 0 22
AutG9656 MDC1 6p21.33 No 0 1 0 0 0 2 0 0 0 22
AutG5087 PBX1 1q23.3 No 0 0 1 0 0 2 0 0 0 22
AutG79867 TCTN2 12q24.31 No 0 1 0 0 0 2 0 0 0 22
AutG57565 KLHL14 18q12.1 No 0 0 1 0 0 2 0 0 0 22
AutG4627 MYH9 22q12.3 No 0 1 0 0 0 2 0 0 0 22
AutG340533 KIAA2022 Xq13.3 Yes 0 1 0 0 0 0 0 0 2 22
AutG23524 SRRM2 16p13.3 No 0 0 1 0 0 2 0 0 0 22
AutG23090 ZNF423 16q12.1 No 0 1 0 0 0 2 0 0 0 22
AutG10343 PKDREJ 22q13.31 No 0 1 0 0 0 2 0 0 0 22
AutG4152 MBD1 18q21.1 No 0 0 1 0 0 0 0 0 2 22
AutG2626 GATA4 8p23.1 No 0 1 0 0 0 2 0 0 0 22
AutG7051 TGM1 14q12 No 0 0 1 0 0 2 0 0 0 22
AutG8777 MPDZ 9p23 No 0 1 0 0 0 2 0 0 0 22
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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