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
AutG1564 CYP2D7P1 22q13 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 3 0 1
AutG64840 PORCN Xp11.23 porcupine homolog (Drosophila) 2 3 1
AutG5880 RAC2 22q13.1 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 2 0 1
AutG25809 TTLL1 22q13.2 tubulin tyrosine ligase-like family, member 1 3 2 1
AutG92922 CCDC102A 16q21 coiled-coil domain containing 102A 2 0 1
AutG2033 EP300 22q13.2 E1A binding protein p300 3 0 1
AutG25771 TBC1D22A 22q13.31 TBC1 domain family, member 22A 3 5 1
AutG59084 ENPP5 6p21.1 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 2 0 1
AutG140564 APOBEC3D 22q13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 2 0 1
AutG4137 MAPT 17q21.31 microtubule-associated protein tau 2 2 1
AutG55267 C22orf26 22q13.31 chromosome 22 open reading frame 26 3 1 1
AutG85865 GTPBP10 7q21.13 GTP-binding protein 10 (putative) 2 1 1
AutG23133 PHF8 Xp11.22 PHD finger protein 8 3 1 1
AutG56850 GRIPAP1 Xp11.23 GRIP1 associated protein 1 2 3 1
AutG4995 OR3A2 17p13.3 olfactory receptor, family 3, subfamily A, member 2 2 1 1
AutG2576 GAGE4 Xp11.4-p11.2 not on reference assembly G antigen 4 2 3 1
AutG23303 KIF13B 8p12 kinesin family member 13B 2 0 1
AutG8392 OR3A3 17p13.2 olfactory receptor, family 3, subfamily A, member 3 2 1 1
AutG377630 USP17L2 8p23.1 ubiquitin specific peptidase 17-like 2 2 1 1
AutG163223 ZNF676 19p12 zinc finger protein 676 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