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
AutG57610 RANBP10 16q22 RAN binding protein 10 2 0 1
AutG53405 CLIC5 6p21.1 chloride intracellular channel 5 2 0 1
AutG55344 PLCXD1 Xp22.33 and Yp11.32 phosphatidylinositol-specific phospholipase C, X domain containing 1 2 2 1
AutG1673 DEFB4A 8p23.1 defensin, beta 4A 2 0 1
AutG619351 C8orf75 8p12 chromosome 8 open reading frame 75 2 0 1
AutG196 AHR 7p21.1 aryl hydrocarbon receptor 2 4 1
AutG85352 KIAA1644 22q13.31 KIAA1644 3 1 1
AutG23384 SPECC1L 22q11.23 sperm antigen with calponin homology and coiled-coil domains 1-like 3 3 1
AutG613210 DEFB136 8p23.1 defensin, beta 136 2 0 1
AutG3785 KCNQ2 20q13.33 potassium voltage-gated channel, KQT-like subfamily, member 2 2 2 1
AutG1398 CRK 17p13.3 v-crk sarcoma virus CT10 oncogene homolog (avian) 2 1 1
AutG11325 DDX42 17q23.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 2 1 1
AutG57634 EP400 12q24.33 E1A binding protein p400 2 2 1
AutG79879 CCDC134 22q13.2 coiled-coil domain containing 134 3 0 1
AutG11135 CDC42EP1 22q13.1 CDC42 effector protein (Rho GTPase binding) 1 2 0 1
AutG27439 CECR6 - cat eye syndrome chromosome region, candidate 6 2 0 1
AutG6473 SHOX Xp22.33 and Yp11.32 short stature homeobox 3 2 1
AutG51512 GTSE1 22q13.31 G-2 and S-phase expressed 1 3 2 1
AutG157697 ERICH1 8p23.3 glutamate-rich 1 3 1 1
AutG7355 SLC35A2 Xp11.23 solute carrier family 35 (UDP-galactose transporter), member A2 2 3 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