AutismKB

Evidence Detail for DNAH5


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Basic Information Top
Gene Symbol:DNAH5 ( CILD3,DNAHC5,FLJ46759,HL1,KIAA1603,KTGNR,PCD )
Gene Full Name: dynein, axonemal, heavy chain 5
Band: 5p15.2
Quick LinksEntrez ID:1767; OMIM: 603335; Uniprot ID:DYH5_HUMAN; ENSEMBL ID: ENSG00000039139
Sequences Top
>DNAH5|1767|nucleotide
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>DNAH5|1767|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (4) 0 (0) 0 (0) 2 (2) 16 (2)
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
Sanders, 2012_1 human bloodASD Mutation screen
  • Subjects: 238 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000020 5 5p15.1-15.2 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000131 5 5p15.2 loss 1 - CNVs Only Present In Patients; Jacquemont, 2006
AutCNV0000140 5 5p15.33-15.2 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0004241 5 5p15.2-p15.33 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
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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