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
AutG10126 DNAL4 22q13.1 dynein, axonemal, light chain 4 2 0 1
AutG115650 TNFRSF13C 22q13.2 tumor necrosis factor receptor superfamily, member 13C 3 0 1
AutG9258 MFHAS1 8p23.1 malignant fibrous histiocytoma amplified sequence 1 2 0 1
AutG84645 C22orf23 22q13.1 chromosome 22 open reading frame 23 2 0 1
AutG4867 NPHP1 2q13 nephronophthisis 1 (juvenile) 2 3 1
AutG443 ASPA 17p13.2 aspartoacylase 2 2 1
AutG10407 SPAG11B 8p23.1 sperm associated antigen 11B 2 1 1
AutG6721 SREBF2 22q13.2 sterol regulatory element binding transcription factor 2 3 0 1
AutG280657 SSX6 Xp11.23 synovial sarcoma, X breakpoint 6 (pseudogene) 2 0 1
AutG26574 AATF 17q12 apoptosis antagonizing transcription factor 2 2 1
AutG91695 RRP7B 22q13.2 ribosomal RNA processing 7 homolog B (S. cerevisiae) 3 1 1
AutG23539 SLC16A8 22q13.1 solute carrier family 16, member 8 (monocarboxylic acid transporter 3) 2 1 1
AutG1506 CTRL 16q22.1 chymotrypsin-like 2 0 1
AutG170685 NUDT10 Xp11.22 nudix (nucleoside diphosphate linked moiety X)-type motif 10 2 3 1
AutG664701 ZNF826P 19p12 zinc finger protein 826, pseudogene 2 1 1
AutG22875 ENPP4 6p21.1 ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 2 0 1
AutG51233 C22orf43 22q11.2 chromosome 22 open reading frame 43 3 3 1
AutG51495 PTPLAD1 15q22.2 protein tyrosine phosphatase-like A domain containing 1 2 1 1
AutG8387 OR1E1 17p13.3 olfactory receptor, family 1, subfamily E, member 1 2 1 1
AutG10752 CHL1 3p26.3 cell adhesion molecule with homology to L1CAM (close homolog of L1) 2 2 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