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
AutG100033822 SNORD115-48 15q11.2 small nucleolar RNA, C/D box 115-48 7 12 2
AutG6817 SULT1A1 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 4 0 2
AutG11273 ATXN2L 16p11.2 ataxin 2-like 6 2 2
AutG100036563 SNORD115-24 15q11.2 small nucleolar RNA, C/D box 115-24 7 12 2
AutG55586 MIOX 22q13.33 myo-inositol oxygenase 5 4 2
AutG100033447 SNORD115-10 15q11.2 small nucleolar RNA, C/D box 115-10 7 12 2
AutG100033816 SNORD115-42 15q11.2 small nucleolar RNA, C/D box 115-42 7 12 2
AutG440366 HERC2P8 16p11.2 hect domain and RLD 2 pseudogene 8 4 2 2
AutG83985 SPNS1 16p11.2 spinster homolog 1 (Drosophila) 6 2 2
AutG1201 CLN3 16p12.1 ceroid-lipofuscinosis, neuronal 3 5 0 2
AutG100033439 SNORD116-27 15q11.2 small nucleolar RNA, C/D box 116-27 7 12 2
AutG100036566 HBII-52-45 15q11.2 - 7 12 2
AutG283767 GOLGA6L1 15q11.2 golgin A6 family-like 1 8 8 2
AutG124446 TMEM219 16p11.2 transmembrane protein 219 5 10 2
AutG9726 ZNF646 16p11.2 zinc finger protein 646 4 0 2
AutG93129 ORAI3 16p11.2 ORAI calcium release-activated calcium modulator 3 4 0 2
AutG100033420 SNORD116-8 15q11.2 small nucleolar RNA, C/D box 116-8 7 12 2
AutG100132341 KIAA0664L3 16p11.2 KIAA0664-like 3 4 1 2
AutG6818 SULT1A3 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 4 8 2
AutG440356 LOC440356 16p11.2 - 5 10 2
Page Counts: 13/62  
13 First  Previous  12  13  14  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