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
AutG253982 ASPHD1 16p11.2 aspartate beta-hydroxylase domain containing 1 5 10 2
AutG1489 CTF1 16p11.2 cardiotrophin 1 4 0 2
AutG100033810 SNORD115-36 15q11.2 small nucleolar RNA, C/D box 115-36 7 12 2
AutG100033809 SNORD115-35 15q11.2 small nucleolar RNA, C/D box 115-35 7 12 2
AutG100033799 SNORD115-22 15q11.2 small nucleolar RNA, C/D box 115-22 7 12 2
AutG23264 ZC3H7B 22q13.2 zinc finger CCCH-type containing 7B 4 0 2
AutG548593 SLX1A 16p11.2 SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae) 4 8 2
AutG100036565 HBII-52-28 15q11.2 - 7 12 2
AutG26000 TBC1D10B 16p11.2 TBC1 domain family, member 10B 4 1 2
AutG3681 ITGAD 16p11.2 integrin, alpha D 4 1 2
AutG23475 QPRT 16p11.2 quinolinate phosphoribosyltransferase 5 10 2
AutG414918 FAM116B 22q13.33 family with sequence similarity 116, member B 4 4 2
AutG146540 ZNF785 16p11.2 zinc finger protein 785 4 0 2
AutG23654 PLXNB2 22q13.33 plexin B2 4 4 2
AutG10421 CD2BP2 16p11.2 CD2 (cytoplasmic tail) binding protein 2 4 1 2
AutG100033424 SNORD116-12 15q11.2 small nucleolar RNA, C/D box 116-12 7 12 2
AutG400322 HERC2P2 15q11.2 hect domain and RLD 2 pseudogene 2 7 9 2
AutG100033807 SNORD115-33 15q11.2 small nucleolar RNA, C/D box 115-33 7 12 2
AutG64755 C16orf58 16p11.2 chromosome 16 open reading frame 58 4 1 2
AutG1106 CHD2 15q26.1 chromodomain helicase DNA binding protein 2 2 3 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