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
AutG400451 FAM174B 15q26.1 family with sequence similarity 174, member B 2 1 1
AutG637 BID 22q11.21 BH3 interacting domain death agonist 3 0 1
AutG9796 PHYHIP 8p21.3 phytanoyl-CoA 2-hydroxylase interacting protein 2 1 1
AutG51065 RPS27L 15q22.2 ribosomal protein S27-like 2 1 1
AutG137868 SGCZ 8p22 sarcoglycan, zeta 2 2 1
AutG302 ANXA2 15q22.2 annexin A2 2 1 1
AutG25787 DGCR9 22q11.21 DiGeorge syndrome critical region gene 9 3 6 1
AutG1808 DPYSL2 8p21.2 dihydropyrimidinase-like 2 2 1 1
AutG771 CA12 15q22.2 carbonic anhydrase XII 2 1 1
AutG6542 SLC7A2 8p22 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 2 1 1
AutG7332 UBE2L3 22q11.21 ubiquitin-conjugating enzyme E2L 3 3 5 1
AutG9133 CCNB2 15q22.2 cyclin B2 2 2 1
AutG526 ATP6V1B2 8p21.3 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 2 3 1
AutG439931 FLJ39582 22q11.21 - 3 6 1
AutG649 BMP1 8p21.3 bone morphogenetic protein 1 2 1 1
AutG8793 TNFRSF10D 8p21.3 tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 2 1 1
AutG4849 CNOT3 19q13.42 CCR4-NOT transcription complex, subunit 3 2 0 1
AutG541565 C8orf58 8p21.3 chromosome 8 open reading frame 58 2 1 1
AutG4481 MSR1 8p22 macrophage scavenger receptor 1 2 2 1
AutG57604 C8orf79 8p22 chromosome 8 open reading frame 79 2 1 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