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
AutG64061 TSPYL2 Xp11.22 TSPY-like 2 2 0 1
AutG1399 CRKL 22q11.21 v-crk sarcoma virus CT10 oncogene homolog (avian)-like 3 7 1
AutG145741 C2CD4A 15q22.2 C2 calcium-dependent domain containing 4A 2 1 1
AutG79168 LILRA6 19q13.42 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 2 2 1
AutG728233 PI4KAP1 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 3 6 1
AutG2958 GTF2A2 15q22.2 general transcription factor IIA, 2, 12kDa 2 2 1
AutG353144 LCE3C 1q21.3 late cornified envelope 3C 2 0 1
AutG366 AQP9 15q21.3 aquaporin 9 2 1 1
AutG6440 SFTPC 8p21.3 surfactant protein C 2 1 1
AutG388125 C2CD4B 15q22.2 C2 calcium-dependent domain containing 4B 2 1 1
AutG5108 PCM1 8p22 pericentriolar material 1 2 1 1
AutG529 ATP6V1E1 22q11.21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 3 0 1
AutG135 ADORA2A 22q11.23 adenosine A2a receptor 3 3 1
AutG27023 FOXB1 15q22.2 forkhead box B1 2 1 1
AutG4824 NKX3-1 8p21.2 NK3 homeobox 1 2 1 1
AutG65078 RTN4R 22q11.21 reticulon 4 receptor 3 7 1
AutG55670 PEX26 22q11.21 peroxisomal biogenesis factor 26 3 0 1
AutG9721 GPRIN2 10q11.22 G protein regulated inducer of neurite outgrowth 2 2 2 1
AutG8794 TNFRSF10C 8p21.3 tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 2 1 1
AutG1960 EGR3 8p21.3 early growth response 3 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