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
AutG6535 SLC6A8 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 2 0 2
AutG93986 FOXP2 7q31.1 forkhead box P2 2 0 2
AutG1917 EEF1A2 20q13.33 eukaryotic translation elongation factor 1 alpha 2 2 0 2
AutG4139 MARK1 1q41 MAP/microtubule affinity-regulating kinase 1 2 0 2
AutG5595 MAPK3 16p11.2 mitogen-activated protein kinase 3 2 0 2
AutG2332 FMR1 Xq27.3 fragile X mental retardation 1 2 2 2
AutG5021 OXTR 3p25.3 oxytocin receptor 2 1 2
AutG8604 SLC25A12 2q31.1 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 2 0 2
AutG3123 HLA-DRB1 6p21.32 major histocompatibility complex, class II, DR beta 1 2 0 2
AutG54715 RBFOX1 16p13.3 RNA binding protein, fox-1 homolog (C. elegans) 1 2 0 2
AutG11069 RAPGEF4 2q31.1 Rap guanine nucleotide exchange factor (GEF) 4 2 0 2
AutG84239 ATP13A4 3q29 ATPase type 13A4 2 0 2
AutG552 AVPR1A 12q14.2 arginine vasopressin receptor 1A 2 0 2
AutG5080 PAX6 11p13 paired box 6 2 0 2
AutG4908 NTF3 12p13.31 neurotrophin 3 2 0 2
AutG4152 MBD1 18q21.1 methyl-CpG binding domain protein 1 2 0 2
AutG2925 GRPR Xp22.2 gastrin-releasing peptide receptor 2 1 2
AutG340533 KIAA2022 Xq13.3 KIAA2022 2 0 2
AutG221037 JMJD1C 10q21.3 jumonji domain containing 1C 2 0 2
AutG3265 HRAS 11p15.5 v-Ha-ras Harvey rat sarcoma viral oncogene homolog 2 0 2
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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