AutismKB 2.0

Copy Number Variation Related Gene List


We collected all the Copy Number Variants(CNVs) from related studies in the dataset. If the study gave the exact start and end point, we collected all the genes in the given region; if not, we deduced genomic region from the band, and collected all the genes in the band.
According to the number of related studies, genes in the dataset are scored 3, 2, 1. If one gene have 2 or more relate studies, and each study has at least one exact region for this gene, the gene will be listed below. The higher the score, the more confident the gene is. (More information about the dataset)
Gene ID Gene Symbol Band Gene Name #CNV studies Score
#Studies with exact region #Studies with deduced region
AutG145858 C15orf32 15q26.1 chromosome 15 open reading frame 32 2 1 1
AutG664618 HSP90AB4P 15q21.3 heat shock protein 90kDa alpha (cytosolic), class B member 4 (pseudogene) 2 2 1
AutG6570 SLC18A1 8p21.3 solute carrier family 18 (vesicular monoamine), member 1 3 3 1
AutG8854 ALDH1A2 15q21.3 aldehyde dehydrogenase 1 family, member A2 2 1 1
AutG55174 INTS10 8p21.3 integrator complex subunit 10 2 1 1
AutG5413 SEPT5 22q11.21 septin 5 3 7 1
AutG10395 DLC1 8p22 deleted in liver cancer 1 2 2 1
AutG2596 GAP43 3q13.31 growth associated protein 43 2 0 1
AutG23221 RHOBTB2 8p21.3 Rho-related BTB domain containing 2 2 1 1
AutG10361 NPM2 8p21.3 nucleophosmin/nucleoplasmin 2 2 1 1
AutG7168 TPM1 15q22.2 tropomyosin 1 (alpha) 2 1 1
AutG375133 PI4KAP2 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 3 4 1
AutG26220 DGCR5 22q11.21 DiGeorge syndrome critical region gene 5 (non-protein coding) 3 6 1
AutG4023 LPL 8p21.3 lipoprotein lipase 2 2 1
AutG157310 PEBP4 8p21.3 phosphatidylethanolamine-binding protein 4 2 1 1
AutG57805 KIAA1967 8p22 KIAA1967 2 1 1
AutG91179 SCARF2 22q11.21 scavenger receptor class F, member 2 3 7 1
AutG57038 RARS2 6q15 arginyl-tRNA synthetase 2, mitochondrial 2 0 1
AutG54793 KCTD9 8p21.2 potassium channel tetramerisation domain containing 9 2 1 1
AutG10 NAT2 8p22 N-acetyltransferase 2 (arylamine N-acetyltransferase) 2 1 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