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
AutG778 CACNA1F Xp11.23 calcium channel, voltage-dependent, L type, alpha 1F subunit 2 3 1
AutG27341 RRP7A 22q13.2 ribosomal RNA processing 7 homolog A (S. cerevisiae) 3 1 1
AutG1607 DGKB 7p21.2 diacylglycerol kinase, beta 90kDa 2 0 1
AutG85002 FAM86B1 8p23.1 family with sequence similarity 86, member B1 2 1 1
AutG100133172 FAM66A 8p23.1 family with sequence similarity 66, member A 2 2 1
AutG150353 DNAJB7 22q13.2 DnaJ (Hsp40) homolog, subfamily B, member 7 3 0 1
AutG55190 NUDT11 Xp11.22 nudix (nucleoside diphosphate linked moiety X)-type motif 11 2 3 1
AutG9468 PCYT1B Xp22.11 phosphate cytidylyltransferase 1, choline, beta 2 2 1
AutG150244 ZDHHC8P1 22q11.23 zinc finger, DHHC-type containing 8 pseudogene 1 3 3 1
AutG7030 TFE3 Xp11.23 transcription factor binding to IGHM enhancer 3 2 3 1
AutG347344 ZNF81 Xp11.23 zinc finger protein 81 2 0 1
AutG55007 FAM118A 22q13.31 family with sequence similarity 118, member A 3 1 1
AutG4594 MUT 6p12.3 methylmalonyl CoA mutase 2 0 1
AutG26150 RIBC2 22q13.31 RIB43A domain with coiled-coils 2 3 1 1
AutG25814 ATXN10 22q13.31 ataxin 10 3 1 1
AutG8228 PNPLA4 Xp22.31 patatin-like phospholipase domain containing 4 2 4 1
AutG7559 ZNF12 7p22.1 zinc finger protein 12 2 0 1
AutG6767 ST13 22q13.2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 3 1 1
AutG25829 TMEM184B 22q13.1 transmembrane protein 184B 2 1 1
AutG56731 SLC2A4RG 20q13.33 SLC2A4 regulator 2 2 1
Page Counts: 61/62  
61 First  Previous  60  61  62  Next  Last

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