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
AutG9810 RNF40 16p11.2 ring finger protein 40 4 0 2
AutG6305 SBF1 22q13.33 SET binding factor 1 5 4 2
AutG1312 COMT 22q11.21 catechol-O-methyltransferase 4 7 2
AutG57194 ATP10A 15q12 ATPase, class V, type 10A 8 12 2
AutG146395 GSG1L 16p12.1 GSG1-like 4 0 2
AutG7122 CLDN5 22q11.21 claudin 5 4 7 2
AutG3053 SERPIND1 22q11.21 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 4 7 2
AutG9993 DGCR2 22q11.21 DiGeorge syndrome critical region gene 2 5 6 2
AutG8214 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 5 6 2
AutG5625 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 6 6 2
AutG56160 NDNL2 15q13.1 necdin-like 2 8 10 2
AutG5902 RANBP1 22q11.21 RAN binding protein 1 4 7 2
AutG283768 GOLGA8G 15q13.1 golgin A8 family, member G 7 10 2
AutG11274 USP18 22q11.2 ubiquitin specific peptidase 18 4 2 2
AutG342184 FMN1 15q13.3 formin 1 7 1 2
AutG89837 FAM7A3 15q13.2 family with sequence similarity 7, member A3 7 8 2
AutG6638 SNRPN 15q11.2 small nuclear ribonucleoprotein polypeptide N 8 12 2
AutG89832 CHRFAM7A 15q13.2 CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 7 9 2
AutG8318 CDC45 22q11.21 cell division cycle 45 homolog (S. cerevisiae) 4 7 2
AutG51586 MED15 22q11.21 mediator complex subunit 15 4 7 2
Page Counts: 3/62  
3 First  Previous  2  3  4  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