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
AutG7499 XG Xp22.33 Xg blood group 2 4 1
AutG400927 LOC400927 22q13.1 - 2 1 1
AutG92591 ASB16 17q21.31 ankyrin repeat and SOCS box-containing 16 2 0 1
AutG55756 INTS9 8p21.1 integrator complex subunit 9 2 0 1
AutG27132 CPNE7 16q24.3 copine VII 2 0 1
AutG283849 EXOC3L 16q22.1 exocyst complex component 3-like 2 0 1
AutG5681 PSKH1 16q22.1 protein serine kinase H1 2 0 1
AutG283507 SUGT1P3 13q14.11 suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3 2 1 1
AutG64800 EFCAB6 22q13.2-q13.31 EF-hand calcium binding domain 6 3 1 1
AutG8390 OR1G1 17p13.3 olfactory receptor, family 1, subfamily G, member 1 2 1 1
AutG91582 RPS19BP1 22q13.1 ribosomal protein S19 binding protein 1 2 0 1
AutG5355 PLP2 Xp11.23 proteolipid protein 2 (colonic epithelium-enriched) 2 3 1
AutG2547 XRCC6 22q13.2 X-ray repair complementing defective repair in Chinese hamster cells 6 3 0 1
AutG27156 RTDR1 22q11.2 rhabdoid tumor deletion region gene 1 3 2 1
AutG146212 KCTD19 16q22.1 potassium channel tetramerisation domain containing 19 2 0 1
AutG83656 C8orf12 8p23.1 chromosome 8 open reading frame 12 2 1 1
AutG4091 SMAD6 15q22.31 SMAD family member 6 2 1 1
AutG51733 UPB1 22q11.23 ureidopropionase, beta 3 3 1
AutG347376 LOC347376 Xp11.22 - 2 3 1
AutG11040 PIM2 Xp11.23 pim-2 oncogene 2 3 1
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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