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
AutG29883 CNOT7 8p22 CCR4-NOT transcription complex, subunit 7 2 1 1
AutG9245 GCNT3 15q22.2 glucosaminyl (N-acetyl) transferase 3, mucin type 2 2 1
AutG150223 YDJC 22q11.21 YdjC homolog (bacterial) 3 3 1
AutG440799 P2RX6P 22q11.21 purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene 3 6 1
AutG27299 ADAMDEC1 8p21.2 ADAM-like, decysin 1 2 1 1
AutG8822 FGF17 8p21.3 fibroblast growth factor 17 2 1 1
AutG85376 RIMBP3 22q11.21 RIMS binding protein 3 3 6 1
AutG340357 LOC340357 8p23.1 - 3 1 1
AutG107 ADCY1 7p12.3 adenylate cyclase 1 (brain) 2 0 1
AutG23516 SLC39A14 8p21.3 solute carrier family 39 (zinc transporter), member 14 2 1 1
AutG51762 RAB8B 15q22.2 RAB8B, member RAS oncogene family 2 1 1
AutG100192420 FLJ41941 22q11.21 - 3 0 1
AutG29799 YPEL1 22q11.21-q11.22 yippee-like 1 (Drosophila) 3 3 1
AutG63898 SH2D4A 8p21.3 SH2 domain containing 4A 2 2 1
AutG113691 MGC16703 22q11.21 - 3 6 1
AutG8756 ADAM7 8p21.2 ADAM metallopeptidase domain 7 2 1 1
AutG54629 FAM63B 15q21.3 family with sequence similarity 63, member B 2 2 1
AutG9046 DOK2 8p21.3 docking protein 2, 56kDa 2 1 1
AutG164592 CCDC116 22q11.21 coiled-coil domain containing 116 3 3 1
AutG10231 RCAN2 6p12.3 regulator of calcineurin 2 2 0 1
Page Counts: 26/62  
26 First  Previous  25  26  27  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