Evidence Detail for CLCN4

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Basic Information Top
Gene Symbol:CLCN4 ( CLC4,ClC-4,ClC-4A,MGC163150 )
Gene Full Name: chloride channel 4
Band: Xp22.3
Quick LinksEntrez ID:1183; OMIM: 302910; Uniprot ID:CLCN4_HUMAN; ENSEMBL ID: ENSG00000073464
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (5) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 126 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000247 X Xp22.22 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000301 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000671 X Xp22.1-p22.3 loss 1 - CNVs Only Present In Patients; Vazna, 2010
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000868 X Xp22.2 gain 1 - paternal Pinto, 2010
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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