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
AutG6663 SOX10 22q13.1 SRY (sex determining region Y)-box 10 2 0 1
AutG2847 MCHR1 22q13.2 melanin-concentrating hormone receptor 1 3 0 1
AutG85441 PRIC285 20q13.33 - 2 2 1
AutG6871 TADA2A 17q12 transcriptional adaptor 2A 2 2 1
AutG84629 TNRC18 7p22.1 trinucleotide repeat containing 18 3 1 1
AutG340602 CXorf67 Xp11.22 chromosome X open reading frame 67 2 3 1
AutG100132399 GAGE12D Xp11.23 G antigen 12D 2 3 1
AutG25776 CBY1 22q13.1 chibby homolog 1 (Drosophila) 2 0 1
AutG23784 POTEH 22q11.1 POTE ankyrin domain family, member H 2 1 1
AutG26189 OR1A2 17p13.3 olfactory receptor, family 1, subfamily A, member 2 2 1 1
AutG89795 NAV3 12q21.2 neuron navigator 3 2 1 1
AutG6839 SUV39H1 Xp11.23 suppressor of variegation 3-9 homolog 1 (Drosophila) 2 3 1
AutG91227 GGTLC2 22q11.22 gamma-glutamyltransferase light chain 2 3 6 1
AutG25813 SAMM50 22q13.31 sorting and assembly machinery component 50 homolog (S. cerevisiae) 3 1 1
AutG7152 TOP1P2 22q11.23 topoisomerase (DNA) I pseudogene 2 3 0 1
AutG114904 C1QTNF6 22q12.3 C1q and tumor necrosis factor related protein 6 2 0 1
AutG6759 SSX4 Xp11.23 synovial sarcoma, X breakpoint 4 2 1 1
AutG29802 VPREB3 22q11.23 pre-B lymphocyte 3 3 3 1
AutG157570 ESCO2 8p21.1 establishment of cohesion 1 homolog 2 (S. cerevisiae) 2 0 1
AutG8658 TNKS 8p23.1 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 1 1
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  (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