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
AutG51673 TPPP3 16q22.1 tubulin polymerization-promoting protein family member 3 2 0 1
AutG79618 HMBOX1 8p21.1-p12 homeobox containing 1 2 0 1
AutG79154 DHRS11 17q12 dehydrogenase/reductase (SDR family) member 11 2 2 1
AutG9543 IGDCC3 15q22.31 immunoglobulin superfamily, DCC subclass, member 3 2 1 1
AutG91316 LOC91316 22q11.23 - 3 3 1
AutG400916 CHCHD10 22q11.23 coiled-coil-helix-coiled-coil-helix domain containing 10 3 3 1
AutG6507 SLC1A3 5p13.2 solute carrier family 1 (glial high affinity glutamate transporter), member 3 2 0 1
AutG91355 LRP5L 22q11.23 low density lipoprotein receptor-related protein 5-like 3 1 1
AutG1602 DACH1 13q21.33 dachshund homolog 1 (Drosophila) 2 0 1
AutG1846 DUSP4 8p12 dual specificity phosphatase 4 2 0 1
AutG285 ANGPT2 8p23.1 angiopoietin 2 2 1 1
AutG203076 C8orf74 8p23.1 chromosome 8 open reading frame 74 2 1 1
AutG3119 HLA-DQB1 6p21.32 major histocompatibility complex, class II, DQ beta 1 2 0 1
AutG348093 RBPMS2 15q22.31 RNA binding protein with multiple splicing 2 2 1 1
AutG10521 DDX17 22q13.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 2 0 1
AutG27254 CSDC2 22q13.2 cold shock domain containing C2, RNA binding 3 0 1
AutG9172 MYOM2 8p23.3 myomesin (M-protein) 2, 165kDa 3 2 1
AutG6928 HNF1B 17q12 HNF1 homeobox B 2 2 1
AutG51435 SCARA3 8p21.1 scavenger receptor class A, member 3 2 0 1
AutG5905 RANGAP1 22q13.2 Ran GTPase activating protein 1 3 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