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
AutG79719 AAGAB 15q23 alpha- and gamma-adaptin binding protein 2 1 1
AutG157627 LOC157627 8p23.1 - 2 0 1
AutG150350 ENTHD1 22q13.1 ENTH domain containing 1 2 0 1
AutG23644 EDC4 16q22.1 enhancer of mRNA decapping 4 2 0 1
AutG25777 SUN2 22q13.1 Sad1 and UNC84 domain containing 2 2 0 1
AutG54954 FAM120C Xp11.22 family with sequence similarity 120C 3 1 1
AutG54878 DPP8 15q22.31 dipeptidyl-peptidase 8 2 1 1
AutG221400 TDRD6 6p12.3 tudor domain containing 6 2 0 1
AutG26088 GGA1 22q13.1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1 2 0 1
AutG503614 DEFB107B 8p23.1 defensin, beta 107B 2 1 1
AutG5048 PAFAH1B1 17p13.3 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 3 0 1
AutG51324 SPG21 15q22.31 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 2 1 1
AutG280658 SSX7 Xp11.22 synovial sarcoma, X breakpoint 7 2 3 1
AutG6855 SYP Xp11.23 synaptophysin 2 3 1
AutG83650 AMAC1L2 8p23.1 acyl-malonyl condensing enzyme 1-like 2 2 0 1
AutG114794 ELFN2 22q13.1 extracellular leucine-rich repeat and fibronectin type III domain containing 2 2 0 1
AutG692149 SCARNA14 15q22.31 small Cajal body-specific RNA 14 2 1 1
AutG23466 CBX6 22q13.1 chromobox homolog 6 2 0 1
AutG84271 POLDIP3 22q13.2 polymerase (DNA-directed), delta interacting protein 3 3 0 1
AutG10478 SLC25A17 22q13.2 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 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