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
AutG727866 FAM156B Xp11.22 family with sequence similarity 156, member B 2 0 1
AutG9154 SLC28A1 15q25.3 solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 2 3 1
AutG51386 EIF3L 22q13.1 eukaryotic translation initiation factor 3, subunit L 2 0 1
AutG8388 OR1E2 17p13.2 olfactory receptor, family 1, subfamily E, member 2 2 1 1
AutG27238 GPKOW Xp11.23 G patch domain and KOW motifs 2 3 1
AutG23616 SH3BP1 22q13.1 SH3-domain binding protein 1 2 0 1
AutG197021 LCTL 15q22.31 lactase-like 2 1 1
AutG10008 KCNE3 11q13.4 potassium voltage-gated channel, Isk-related family, member 3 2 0 1
AutG170626 XAGE3 Xp11.22 X antigen family, member 3 2 0 1
AutG286514 MAGEB18 Xp21.3 melanoma antigen family B, 18 2 0 1
AutG8925 HERC1 15q22.31 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 2 1 1
AutG9978 RBX1 22q13.2 ring-box 1, E3 ubiquitin protein ligase 3 0 1
AutG112885 PHF21B 22q13.31 PHD finger protein 21B 3 1 1
AutG266747 RGL4 22q11.23 ral guanine nucleotide dissociation stimulator-like 4 3 3 1
AutG7380 UPK3A 22q13.31 uroplakin 3A 3 1 1
AutG29100 TMEM208 16q22.1 transmembrane protein 208 2 0 1
AutG23112 TNRC6B 22q13.1 trinucleotide repeat containing 6B 2 2 1
AutG23467 NPTXR 22q13.1 neuronal pentraxin receptor 2 0 1
AutG57626 KLHL1 13q21.33 kelch-like 1 (Drosophila) 2 1 1
AutG57215 THAP11 16q22.1 THAP domain containing 11 2 0 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