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
AutG57680 CHD8 14q11.2 chromodomain helicase DNA binding protein 8 1 0 1
AutG6326 SCN2A 2q24.3 sodium channel, voltage-gated, type II, alpha subunit 1 0 1
AutG1106 CHD2 15q26.1 chromodomain helicase DNA binding protein 2 1 0 1
AutG2904 GRIN2B 12p13.1 glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1 0 1
AutG288 ANK3 10q21.2 ankyrin 3, node of Ranvier (ankyrin G) 1 0 1
AutG29123 ANKRD11 16q24.3 ankyrin repeat domain 11 1 0 1
AutG7249 TSC2 16p13.3 tuberous sclerosis 2 1 0 1
AutG4204 MECP2 Xq28 methyl CpG binding protein 2 (Rett syndrome) 1 2 1
AutG6792 CDKL5 Xp22.13 cyclin-dependent kinase-like 5 1 0 1
AutG3778 KCNMA1 10q22.3 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1 0 1
AutG9037 SEMA5A 5p15.31 sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1 0 1
AutG5528 PPP2R5D 6p21.1 protein phosphatase 2, regulatory subunit B', delta 1 0 1
AutG301 ANXA1 9q21.13 annexin A1 1 0 1
AutG6531 SLC6A3 5p15.33 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 1 0 1
AutG23167 EFR3A 8q24.22 EFR3 homolog A (S. cerevisiae) 1 0 1
AutG7982 ST7 7q31.2 suppression of tumorigenicity 7 1 0 1
AutG116442 RAB39B Xq28 RAB39B, member RAS oncogene family 1 0 1
AutG321 APBA2 15q13.1 amyloid beta (A4) precursor protein-binding, family A, member 2 1 0 1
AutG7337 UBE3A 15q11.2 ubiquitin protein ligase E3A 1 1 1
AutG1814 DRD3 3q13.31 dopamine receptor D3 1 0 1
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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