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
AutG11083 DIDO1 20q13.33 death inducer-obliterator 1 2 2 1
AutG57026 PDXP 22q13.1 pyridoxal (pyridoxine, vitamin B6) phosphatase 2 0 1
AutG10238 DCAF7 17q23.3 DDB1 and CUL4 associated factor 7 2 1 1
AutG55055 ZWILCH 15q22.31 Zwilch, kinetochore associated, homolog (Drosophila) 2 1 1
AutG207063 DHRSX Xp22.33 and Yp11.2 dehydrogenase/reductase (SDR family) X-linked 3 3 1
AutG255349 TMEM211 22q11.23 transmembrane protein 211 3 1 1
AutG11152 WDR45 Xp11.23 WD repeat domain 45 2 3 1
AutG468 ATF4 22q13.1 activating transcription factor 4 (tax-responsive enhancer element B67) 2 0 1
AutG5935 RBM3 Xp11.23 RNA binding motif (RNP1, RRM) protein 3 2 3 1
AutG3750 KCND1 Xp11.23 potassium voltage-gated channel, Shal-related subfamily, member 1 2 3 1
AutG286133 SCARA5 8p21.1 scavenger receptor class A, member 5 (putative) 2 0 1
AutG400931 LOC400931 22q13.31 - 3 1 1
AutG157574 FBXO16 8p21.1 F-box protein 16 2 0 1
AutG644128 RPL23AP53 8p23.3 ribosomal protein L23a pseudogene 53 3 0 1
AutG412 STS Xp22.31 steroid sulfatase (microsomal), isozyme S 2 3 1
AutG2543 GAGE1 Xp11.23 G antigen 1 2 3 1
AutG157739 TDH 8p23.1 L-threonine dehydrogenase 2 1 1
AutG164684 WBP2NL 22q13.2 WBP2 N-terminal like 3 0 1
AutG644165 LOC644165 22q11.23 - 3 0 1
AutG3563 IL3RA Xp22.3 and Yp13.3 interleukin 3 receptor, alpha (low affinity) 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