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
AutG51132 RLIM Xq13.2 ring finger protein, LIM domain interacting 1 0 1
AutG3146 HMGB1 13q12.3 high-mobility group box 1 1 0 1
AutG6742 SSBP1 7q34 single-stranded DNA binding protein 1 1 0 1
AutG1742 DLG4 17p13.1 discs, large homolog 4 (Drosophila) 1 0 1
AutG23705 CADM1 11q23.3 cell adhesion molecule 1 1 0 1
AutG55885 LMO3 12p12.3 LIM domain only 3 (rhombotin-like 2) 1 0 1
AutG2891 GRIA2 4q32.1 glutamate receptor, ionotropic, AMPA 2 1 0 1
AutG3458 IFNG 12q15 interferon, gamma 1 0 1
AutG5981 RFC 4p14 replication factor C (activator 1) 1, 145kDa 1 0 1
AutG5077 PAX3 2q36.1 paired box 3 1 0 1
AutG5159 PDGFRB 5q32 platelet-derived growth factor receptor, beta polypeptide 1 0 1
AutG4566 TRNK - mitochondrially encoded tRNA lysine 1 0 1
AutG116987 AGAP1 2q37.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 1 0 1
AutG7434 VIPR2 7q36.3 vasoactive intestinal peptide receptor 2 1 0 1
AutG5141 PDE4A 19p13.2 phosphodiesterase 4A, cAMP-specific 1 0 1
AutG54913 RPP25 15q24.2 ribonuclease P/MRP 25kDa subunit 1 0 1
AutG2334 AFF2 Xq28 AF4/FMR2 family, member 2 1 0 1
AutG7471 WNT1 12q13.12 wingless-type MMTV integration site family, member 1 1 0 1
AutG7257 TSNAX 1q42.2 translin-associated factor X 1 0 1
AutG26960 NBEA 13q13.3 neurobeachin 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