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
AutG80724 ACAD10 12q24.12 No 0 0 0 0 0 2 0 0 0 20
AutG10765 KDM5B 1q32.1 No 0 0 0 0 0 2 0 0 0 20
AutG8562 DENR 12q24.31 No 0 0 0 0 0 2 0 0 0 20
AutG3265 HRAS 11p15.5 Yes 0 0 0 0 0 0 0 0 2 20
AutG4774 NFIA 1p31.3 No 0 0 0 0 0 2 0 0 0 20
AutG23258 DENND5A 11p15.4 No 0 0 0 0 0 2 0 0 0 20
AutG3752 KCND3 1p13.2 No 0 0 0 0 0 1 0 0 1 20
AutG11141 IL1RAPL1 Xp21.3-p21.2 Yes 0 1 0 0 0 0 0 1 1 20
AutG6773 STAT2 12q13.2 No 0 0 0 0 0 2 0 0 0 20
AutG25878 MXRA5 Xp22.33 No 0 1 0 0 0 1 0 1 0 20
AutG2558 GABRA5 15q12 No 0 3 0 1 2 0 0 0 1 20
AutG27131 SNX5 20p11.23 No 0 0 0 0 0 2 0 0 0 20
AutG7846 TUBA1A 12q13.12 No 0 0 0 0 0 2 0 0 0 20
AutG3708 ITPR1 3p26.1 No 0 0 0 0 2 1 0 1 0 20
AutG1144 CHRND 2q37.1 No 0 0 0 0 0 2 0 0 0 20
AutG22941 SHANK2 11q13.3-q13.4 No 0 1 0 0 0 0 0 1 1 20
AutG57717 PCDHB16 5q31.3 No 0 0 0 0 0 2 0 0 0 20
AutG157680 VPS13B 8q22.2 Yes 0 0 0 0 0 1 0 0 1 20
AutG6569 SLC34A1 5q35.3 No 0 0 0 0 0 2 0 0 0 20
AutG6646 SOAT1 1q25.2 No 0 0 0 0 0 2 0 0 0 20
AutG2873 GPS1 17q25.3 No 0 0 1 0 0 1 0 1 0 20
AutG221037 JMJD1C 10q21.3 No 0 0 0 0 0 0 0 0 2 20
AutG55777 MBD5 2q23.2 Yes 0 1 0 0 0 1 0 1 0 20
AutG10522 DEAF1 11p15.5 No 0 0 0 0 0 1 0 0 1 20
AutG143689 PIWIL4 11q21 No 0 0 0 0 0 2 0 0 0 20
Page Counts: 8/10  
8 First  Previous  7  8  9  Next  Last

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