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
AutG3028 HSD17B10 Xp11.22 hydroxysteroid (17-beta) dehydrogenase 10 2 0 1
AutG2781 GNAZ 22q11.22-q11.23 guanine nucleotide binding protein (G protein), alpha z polypeptide 3 2 1
AutG8623 ASMTL Xp22.3 and Yp11.3 acetylserotonin O-methyltransferase-like 2 3 1
AutG4088 SMAD3 15q22.33 SMAD family member 3 2 1 1
AutG4994 OR3A1 17p13.3 olfactory receptor, family 3, subfamily A, member 1 2 1 1
AutG7531 YWHAE 17p13.3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 2 2 1
AutG221395 GPR116 6p12.3 G protein-coupled receptor 116 2 0 1
AutG79159 NOL12 22q13.1 nucleolar protein 12 2 0 1
AutG27344 PCSK1N Xp11.23 proprotein convertase subtilisin/kexin type 1 inhibitor 2 3 1
AutG9500 MAGED1 Xp11.22 melanoma antigen family D, 1 2 3 1
AutG3128 HLA-DRB6 6p21.32 major histocompatibility complex, class II, DR beta 6 (pseudogene) 2 0 1
AutG613211 DEFB134 8p23.1 defensin, beta 134 2 0 1
AutG729447 GAGE2A Xp11.23 G antigen 2A 2 3 1
AutG26231 LRRC29 16q22.1 leucine rich repeat containing 29 2 0 1
AutG140685 ZBTB46 20q13.33 zinc finger and BTB domain containing 46 2 2 1
AutG9929 JOSD1 22q13.1 Josephin domain containing 1 2 0 1
AutG9326 ZNHIT3 17q12 zinc finger, HIT-type containing 3 2 3 1
AutG2053 EPHX2 8p21.2-p21.1 epoxide hydrolase 2, cytoplasmic 2 0 1
AutG140771 SMCR5 17p11.2 Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) 2 3 1
AutG347918 EP400NL 12q24.33 EP400 N-terminal like 2 2 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