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
AutG150160 CCT8L2 22q11.1 chaperonin containing TCP1, subunit 8 (theta)-like 2 2 0 1
AutG10002 NR2E3 15q23 nuclear receptor subfamily 2, group E, member 3 2 4 1
AutG503618 DEFB104B 8p23.1 defensin, beta 104B 2 1 1
AutG2623 GATA1 Xp11.23 GATA binding protein 1 (globin transcription factor 1) 2 3 1
AutG54962 TIPIN 15q22.31 TIMELESS interacting protein 2 1 1
AutG100130418 CECR7 22q11.1 cat eye syndrome chromosome region, candidate 7 (non-protein coding) 2 0 1
AutG124935 SLC43A2 17p13.3 solute carrier family 43, member 2 2 0 1
AutG55326 AGPAT5 8p23.1 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) 2 3 1
AutG23607 CD2AP 6p12.3 CD2-associated protein 2 0 1
AutG115761 ARL11 13q14.2 ADP-ribosylation factor-like 11 2 0 1
AutG729408 GAGE2D Xp11.23 not on reference assembly G antigen 2D 2 3 1
AutG2245 FGD1 Xp11.22 FYVE, RhoGEF and PH domain containing 1 3 1 1
AutG83595 SOX7 8p23.1 SRY (sex determining region Y)-box 7 2 1 1
AutG4752 NEK3 13q14.3 NIMA (never in mitosis gene a)-related kinase 3 2 0 1
AutG51302 CYP39A1 6p12.3 cytochrome P450, family 39, subfamily A, polypeptide 1 2 0 1
AutG65267 WNK3 Xp11.22 WNK lysine deficient protein kinase 3 2 1 1
AutG3127 HLA-DRB5 6p21.32 major histocompatibility complex, class II, DR beta 5 2 0 1
AutG55140 ELP3 8p21.1 elongation protein 3 homolog (S. cerevisiae) 2 0 1
AutG129049 SGSM1 22q11.23 small G protein signaling modulator 1 3 1 1
AutG221391 OPN5 6p12.3 opsin 5 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