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
AutG245915 DEFB112 6p12.3 defensin, beta 112 2 0 1
AutG653048 XAGE1C Xp11.22 X antigen family, member 1C 2 3 1
AutG10214 SSX3 Xp11.23 synovial sarcoma, X breakpoint 3 2 1 1
AutG4282 MIF 22q11.23 macrophage migration inhibitory factor (glycosylation-inhibiting factor) 3 3 1
AutG54956 PARP16 15q22.31 poly (ADP-ribose) polymerase family, member 16 2 1 1
AutG150365 MEI1 22q13.2 meiosis inhibitor 1 3 0 1
AutG389852 SPACA5 Xp11.23 sperm acrosome associated 5 3 0 1
AutG158724 FAM47A Xp21.1 family with sequence similarity 47, member A 2 0 1
AutG11276 SYNRG 17q12 synergin, gamma 2 2 1
Page Counts: 62/62  
62 First  Previous  60  61  62 

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