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
AutG100033811 SNORD115-37 15q11.2 small nucleolar RNA, C/D box 115-37 7 12 2
AutG100033441 SNORD115-4 15q11.2 small nucleolar RNA, C/D box 115-4 7 12 2
AutG791114 PWRN1 15q11.2 Prader-Willi region non-protein coding RNA 1 7 9 2
AutG487 ATP2A1 16p11.2 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 7 2 2
AutG100033434 SNORD116-23 15q11.2 small nucleolar RNA, C/D box 116-23 7 12 2
AutG100033451 SNORD115-14 15q11.2 small nucleolar RNA, C/D box 115-14 7 12 2
AutG606724 LOC606724 16p11.2 - 5 8 2
AutG100033458 SNORD115-19 15q11.2 small nucleolar RNA, C/D box 115-19 7 12 2
AutG23542 MAPK8IP2 22q13.33 mitogen-activated protein kinase 8 interacting protein 2 4 4 2
AutG5261 PHKG2 16p11.2 phosphorylase kinase, gamma 2 (testis) 4 0 2
AutG100033818 SNORD115-44 15q11.2 small nucleolar RNA, C/D box 115-44 7 12 2
AutG410 ARSA 22q13.33 arylsulfatase A 5 4 2
AutG54620 FBXL19 16p11.2 F-box and leucine-rich repeat protein 19 4 0 2
AutG100033448 SNORD115-11 15q11.2 small nucleolar RNA, C/D box 115-11 7 12 2
AutG5652 PRSS8 16p11.2 protease, serine, 8 4 0 2
AutG100033820 SNORD116-28 15q11.2 small nucleolar RNA, C/D box 116-28 7 12 2
AutG7284 TUFM 16p11.2 Tu translation elongation factor, mitochondrial 7 2 2
AutG79087 ALG12 22q13.33 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) 4 5 2
AutG100033453 SNORD115-15 15q11.2 small nucleolar RNA, C/D box 115-15 7 12 2
AutG4150 MAZ 16p11.2 MYC-associated zinc finger protein (purine-binding transcription factor) 5 10 2
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  (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