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
AutG1804 DPP6 7q36.2 dipeptidyl-peptidase 6 2 5 1
AutG1454 CSNK1E 22q13.1 casein kinase 1, epsilon 2 1 1
AutG9325 TRIP4 15q22.31 thyroid hormone receptor interactor 4 2 1 1
AutG23096 IQSEC2 Xp11.22 IQ motif and Sec7 domain 2 3 0 1
AutG157 ADRBK2 22q11|22q12.1 adrenergic, beta, receptor kinase 2 3 1 1
AutG10743 RAI1 17p11.2 retinoic acid induced 1 3 3 1
AutG7941 PLA2G7 6p12.3 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 2 0 1
AutG170302 ARX Xp21.3 aristaless related homeobox 2 0 1
AutG6853 SYN1 Xp11.3-p11.23 synapsin I 3 0 1
AutG9187 SLC24A1 15q22.31 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 2 1 1
AutG11198 SUPT16H 14q11.2 suppressor of Ty 16 homolog (S. cerevisiae) 2 0 1
AutG158 ADSL 22q13.1 adenylosuccinate lyase 2 2 1
AutG90459 ERI1 8p23.1 exoribonuclease 1 2 0 1
AutG9639 ARHGEF10 8p23.3 Rho guanine nucleotide exchange factor (GEF) 10 3 2 1
AutG9960 USP3 15q22.3 ubiquitin specific peptidase 3 2 1 1
AutG80274 SCUBE1 22q13.2 signal peptide, CUB domain, EGF-like 1 3 1 1
AutG5071 PARK2 6q25.2-q27 parkinson protein 2, E3 ubiquitin protein ligase (parkin) 3 3 1
AutG6942 TCF20 22q13.2 transcription factor 20 (AR1) 3 0 1
AutG860 RUNX2 6p21.1 runt-related transcription factor 2 2 0 1
AutG2565 GABRG1 4p12 gamma-aminobutyric acid (GABA) A receptor, gamma 1 2 0 1
Page Counts: 20/62  
20 First  Previous  19  20  21  Next  Last

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