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
AutG5232 PGK2 6p12.3 phosphoglycerate kinase 2 2 0 1
AutG29057 FAM156A Xp11.22 family with sequence similarity 156, member A 2 0 1
AutG23764 MAFF 22q13.1 v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian) 2 1 1
AutG9189 ZBED1 Xp22.33 and Yp11 zinc finger, BED-type containing 1 2 3 1
AutG56993 TOMM22 22q13.1 translocase of outer mitochondrial membrane 22 homolog (yeast) 2 0 1
AutG100271722 LOC100271722 22q13.31 - 3 1 1
AutG129025 ZNF280A 22q11.22 zinc finger protein 280A 3 4 1
AutG6122 RPL3 22q13.1 ribosomal protein L3 2 0 1
AutG728957 ZNF705D 8p23.1 zinc finger protein 705D 2 1 1
AutG57477 SHROOM4 Xp11.22 shroom family member 4 2 3 1
AutG4809 NHP2L1 22q13 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 3 0 1
AutG55815 TSNAXIP1 16q22.1 translin-associated factor X interacting protein 1 2 0 1
AutG91689 C22orf32 22q13.2 chromosome 22 open reading frame 32 3 0 1
AutG349196 LOC349196 8p23.1 - 2 2 1
AutG494197 SPANXN5 Xp11.22 SPANX family, member N5 2 1 1
AutG55593 OTUD5 Xp11.23 OTU domain containing 5 2 3 1
AutG8996 NOL3 16q22.1 nucleolar protein 3 (apoptosis repressor with CARD domain) 2 0 1
AutG7008 TEF 22q13.2 thyrotrophic embryonic factor 3 0 1
AutG595099 SNORD18B 15q22.31 small nucleolar RNA, C/D box 18B 2 1 1
AutG7343 UBTF 17q21.31 upstream binding transcription factor, RNA polymerase I 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