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
AutG10240 MRPS31 13q14.11 mitochondrial ribosomal protein S31 2 1 1
AutG414 ARSD Xp22.33 arylsulfatase D 2 4 1
AutG293 SLC25A6 Xp22.32 and Yp11.3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 2 3 1
AutG389610 XKR5 8p23.1 XK, Kell blood group complex subunit-related family, member 5 2 3 1
AutG11252 PACSIN2 22q13.2 protein kinase C and casein kinase substrate in neurons 2 3 1 1
AutG25817 FAM19A5 22q13.32 family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 3 4 1
AutG8712 PAGE1 Xp11.23 P antigen family, member 1 (prostate associated) 2 3 1
AutG27242 TNFRSF21 6p12.3 tumor necrosis factor receptor superfamily, member 21 2 0 1
AutG728358 DEFA1B 8p23.1 defensin, alpha 1B 2 2 1
AutG53944 CSNK1G1 15q22.31 casein kinase 1, gamma 1 2 1 1
AutG158572 LOC158572 Xp11.23 - 2 3 1
AutG164668 APOBEC3H 22q13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 2 1 1
AutG150379 PNPLA5 22q13.31 patatin-like phospholipase domain containing 5 3 1 1
AutG9069 CLDN12 7q21.13 claudin 12 2 0 1
AutG653319 KIAA0895L 16q22.1 KIAA0895-like 2 0 1
AutG51816 CECR1 22q11.2 cat eye syndrome chromosome region, candidate 1 2 1 1
AutG286530 P2RY8 Xp22.33 and Yp11.3 purinergic receptor P2Y, G-protein coupled, 8 2 3 1
AutG10084 PQBP1 Xp11.23 polyglutamine binding protein 1 2 3 1
AutG79856 SNX22 15q22.31 sorting nexin 22 2 1 1
AutG284099 C17orf78 17q12 chromosome 17 open reading frame 78 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