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
AutG6124 RPL4 15q22.31 ribosomal protein L4 2 1 1
AutG83606 C22orf13 22q11.2 chromosome 22 open reading frame 13 3 3 1
AutG80119 PIF1 15q22.31 PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) 2 1 1
AutG390649 OR4F15 15q26.3 olfactory receptor, family 4, subfamily F, member 15 2 1 1
AutG653333 FAM86B2 8p23.1 family with sequence similarity 86, member B2 2 2 1
AutG729396 GAGE12J Xp11.23 G antigen 12J 2 3 1
AutG25894 PLEKHG4 16q22.1 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 2 0 1
AutG90121 TSR2 Xp11.22 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 2 1 1
AutG11056 DDX52 17q12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 2 2 1
AutG3291 HSD11B2 16q22.1 hydroxysteroid (11-beta) dehydrogenase 2 2 0 1
AutG389856 USP27X Xp11.23 ubiquitin specific peptidase 27, X-linked 2 3 1
AutG10762 NUP50 22q13.31 nucleoporin 50kDa 3 1 1
AutG26609 VCX Xp22.31 variable charge, X-linked 2 4 1
AutG7477 WNT7B 22q13.31 wingless-type MMTV integration site family, member 7B 3 1 1
AutG100101629 GAGE8 Xp11 not on reference assembly G antigen 8 2 3 1
AutG66035 SLC2A11 22q11.23 solute carrier family 2 (facilitated glucose transporter), member 11 3 3 1
AutG83648 FAM167A 8p23.1 family with sequence similarity 167, member A 2 0 1
AutG8398 PLA2G6 22q13.1 phospholipase A2, group VI (cytosolic, calcium-independent) 2 1 1
AutG641517 DEFB109P1B 8p23.1 defensin, beta 109, pseudogene 1B 2 2 1
AutG169270 ZNF596 8p23.3 zinc finger protein 596 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