AutismKB 2.0

NGS and Other Studies Related Gene List

We collected all the low scale candidate gene studies in the dataset, including case report, mutation screen, gene function studies and some other low scale studies but not association studies.
According to the number of positive studies, genes in the dataset are scored by 5, 4, 3, 2, 1 and 0. The higher the score, the more confident the gene is. (More information about the dataset)
Gene ID Gene Symbol Band Gene Name Candidate Gene Studies Score
Positive Negative
AutG2571 GAD1 2q31.1 glutamate decarboxylase 1 (brain, 67kDa) 1 0 1
AutG23191 CYFIP1 15q11.2 cytoplasmic FMR1 interacting protein 1 1 0 1
AutG8452 CUL3 2q36.2 cullin 3 1 0 1
AutG3356 HTR2A 13q14.2 5-hydroxytryptamine (serotonin) receptor 2A 1 1 1
AutG29072 SETD2 3p21.31 SET domain containing 2 1 0 1
AutG152330 CNTN4 3p26.3-p26.2 contactin 4 1 0 1
AutG7248 TSC1 9q34 tuberous sclerosis 1 1 0 1
AutG27185 DISC1 1q42.2 disrupted in schizophrenia 1 1 1 1
AutG5579 PRKCB1 16p12.2-p12.1 protein kinase C, beta 1 0 1
AutG93664 CADPS2 7q31.32 Ca++-dependent secretion activator 2 1 0 1
AutG22909 FAN1 15q13.3 FANCD2/FANCI-associated nuclease 1 1 0 1
AutG5879 RAC1 7p22.1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 1 0 1
AutG65217 PCDH15 10q21.1 protocadherin-related 15 1 0 1
AutG139411 PTCHD1 Xp22.11 patched domain containing 1 1 0 1
AutG2557 GABRA4 4p12 gamma-aminobutyric acid (GABA) A receptor, alpha 4 1 0 1
AutG6804 STX1A 7q11.23 syntaxin 1A (brain) 1 0 1
AutG22829 NLGN4Y Yq11.221 neuroligin 4, Y-linked 1 0 1
AutG2969 GTF2I 7q11.23 general transcription factor IIi 1 0 1
AutG5594 MAPK1 22q11.22 mitogen-activated protein kinase 1 1 0 1
AutG103 ADAR 1q21.3 adenosine deaminase, RNA-specific 1 0 1
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  (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