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
AutG57510 XPO5 6p21.1 No 0 1 0 0 0 2 0 0 0 22
AutG31 ACACA 17q12 No 0 1 0 0 0 1 0 0 1 22
AutG7415 VCP 9p13.3 No 0 1 0 0 0 2 0 0 0 22
AutG79718 TBL1XR1 3q26.32 No 0 0 1 0 0 1 0 0 1 22
AutG5587 PRKD1 14q12 No 0 0 1 0 0 2 0 0 0 22
AutG7273 TTN 2q31.2 No 0 0 1 0 0 2 0 0 0 22
AutG4041 LRP5 11q13.2 No 0 1 0 0 0 2 0 0 0 22
AutG56243 KIAA1217 10p12.2-p12.1 No 0 0 1 0 0 2 0 0 0 22
AutG5978 REST 4q12 No 0 1 0 0 0 2 0 0 0 22
AutG26155 NOC2L 1p36.33 No 0 1 0 0 0 2 0 0 0 22
AutG55133 SRBD1 2p21 No 0 1 0 0 0 2 0 0 0 22
AutG154865 IQUB 7q31.32 No 0 0 1 0 0 2 0 0 0 22
AutG9777 TM9SF4 20q11.21 No 0 0 1 0 0 2 0 0 0 22
AutG26278 SACS 13q12.12 No 0 0 1 0 0 2 0 0 0 22
AutG2925 GRPR Xp22.2 No 0 1 0 0 0 0 0 0 2 22
AutG147798 TMC4 19q13.42 No 0 1 1 0 0 1 0 1 0 22
AutG2194 FASN 17q25.3 No 0 0 1 0 0 2 0 0 0 22
AutG7204 TRIO 5p15.2 No 0 1 0 0 0 1 0 0 1 22
AutG6441 SFTPD 10q22.3 No 0 0 1 0 0 2 0 0 0 22
AutG5976 UPF1 19p13.11 No 0 0 1 0 0 2 0 0 0 22
AutG5430 POLR2A 17p13.1 No 0 0 1 0 0 2 0 0 0 22
AutG2770 GNAI1 7q21.11 No 0 1 0 0 0 2 0 0 0 22
AutG1977 EIF4E 4q23 No 0 0 1 0 0 1 0 0 1 22
AutG5290 PIK3CA 3q26.32 No 0 0 1 0 0 2 0 0 0 22
AutG4643 MYO1E 15q22.2 No 0 1 1 0 0 1 0 1 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