Evidence Detail for ATP13A4

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Basic Information Top
Gene Symbol:ATP13A4 ( DKFZp761I1011,MGC126545 )
Gene Full Name: ATPase type 13A4
Band: 3q29
Quick LinksEntrez ID:84239; OMIM: 609556; Uniprot ID:AT134_HUMAN; ENSEMBL ID: ENSG00000127249
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 (2) 1 (1) 0 (0) 2 (2) 17 (3)
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
Kwasnicka-Crawford, 2005_1 human blood--ASD genetics: mutation screen
  • Subjects: 30
  • Normal Controls: -
  • Methods: direct sequencing of 30 exons
  • Evidence Details: Three variants resulted in amino acid changes, I181M(rs6788448), A353V, and E646D(rs35424709), the first of which was a known SNP. The second was a substitution of valine for an alanine and found in only one patient. The third resulted in the substitution of aspartic acid for a glutamic acid in exon 17 in 6 patients and was not found in the controls. E646 is located between the fourth and fifth transmembrane domain, near the conserved phosphorylation site and the nucleotide-binding domain. The potential significance of this variant has not been determined.
Vallipuram, 2010_1 human COS-7 cells--- protein function
  • Subjects: -
  • Normal Controls: -
  • Methods: calcium imaging
  • Evidence Details: Over-expression of ATP13A4 in COS-7 cells caused a significant increase in the intracellular calcium level. Interestingly, over-expression of the sequence variant containing a substitution of aspartic acid for a glutamic acid (E646D), previously found in patients with autism spectrum disorder (ASD), did not increase the free cellular calcium likely due to the mutation.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000128 3 3q27.2-29 loss 1 - Denovo CNVs; Jacquemont, 2006
AutCNV0000716 3 3q27.2-q29 loss 1 - Denovo CNVs; Bremer, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000048 3q29 3 D3S2418 2.45 - - Risch, 1999

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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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