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
AutG91319 DERL3 22q11.23 Der1-like domain family, member 3 3 3 1
AutG81557 MAGED4B Xp11.22 melanoma antigen family D, 4B 2 3 1
AutG2192 FBLN1 22q13.31 fibulin 1 3 1 1
AutG80339 PNPLA3 22q13.31 patatin-like phospholipase domain containing 3 3 1 1
AutG80028 FBXL18 7p22.1 F-box and leucine-rich repeat protein 18 3 1 1
AutG200315 APOBEC3A 22q13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A 2 1 1
AutG283807 FBXL22 15q22.31 F-box and leucine-rich repeat protein 22 2 1 1
AutG167 CRISP1 6p12.3 cysteine-rich secretory protein 1 2 0 1
AutG595097 SNORD16 15q22.31 small nucleolar RNA, C/D box 16 2 1 1
AutG139422 MAGEB10 Xp21.3 melanoma antigen family B, 10 2 0 1
AutG27350 APOBEC3C 22q13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 2 1 1
AutG150384 CN5H6.4 22q13.31 - 3 2 1
AutG1508 CTSB 8p23.1 cathepsin B 2 0 1
AutG162514 TRPV3 17p13.2 transient receptor potential cation channel, subfamily V, member 3 2 1 1
AutG23708 GSPT2 Xp11.22 G1 to S phase transition 2 2 3 1
AutG1670 DEFA5 8p23.1 defensin, alpha 5, Paneth cell-specific 2 2 1
AutG6223 RPS19 19q13.2 ribosomal protein S19 2 0 1
AutG24140 FTSJ1 Xp11.23 FtsJ homolog 1 (E. coli) 2 3 1
AutG27127 SMC1B 22q13.31 structural maintenance of chromosomes 1B 3 1 1
AutG10682 EBP Xp11.23 emopamil binding protein (sterol isomerase) 2 3 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