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
AutG1184 CLCN5 Xp11.23 chloride channel 5 2 3 1
AutG91353 IGLL3P 22q11.23 immunoglobulin lambda-like polypeptide 3, pseudogene 3 1 1
AutG81577 GFOD2 16q22.1 glucose-fructose oxidoreductase domain containing 2 2 0 1
AutG2222 FDFT1 8p23.1 farnesyl-diphosphate farnesyltransferase 1 2 0 1
AutG1009 CDH11 16q21 cadherin 11, type 2, OB-cadherin (osteoblast) 2 0 1
AutG6005 RHAG 6p12.3 Rh-associated glycoprotein 2 0 1
AutG50649 ARHGEF4 2q21.1 Rho guanine nucleotide exchange factor (GEF) 4 2 1 1
AutG84247 LDOC1L 22q13.31 leucine zipper, down-regulated in cancer 1-like 3 1 1
AutG90060 CCDC120 Xp11.23 coiled-coil domain containing 120 2 3 1
AutG9582 APOBEC3B 22q13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 2 1 1
AutG123904 NRN1L 16q22.1 neuritin 1-like 2 0 1
AutG595098 SNORD18A 15q22.31 small nucleolar RNA, C/D box 18A 2 1 1
AutG84465 MEGF11 15q22.31 multiple EGF-like-domains 11 2 1 1
AutG441308 OR4F21 8p23.3 olfactory receptor, family 4, subfamily F, member 21 3 0 1
AutG284098 PIGW 17q12 phosphatidylinositol glycan anchor biosynthesis, class W 2 2 1
AutG8464 SUPT3H 6p21.1 suppressor of Ty 3 homolog (S. cerevisiae) 2 0 1
AutG94137 RP1L1 8p23.1 retinitis pigmentosa 1-like 1 2 1 1
AutG150356 CHADL 22q13.2 chondroadherin-like 3 0 1
AutG9506 PAGE4 Xp11.23 P antigen family, member 4 (prostate associated) 2 3 1
AutG25774 GSTTP1 22q11.23 glutathione S-transferase theta pseudogene 1 3 2 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