Evidence Detail for ABCA13

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Basic Information Top
Gene Symbol:ABCA13 ( DKFZp313D2411,FLJ16398,FLJ33876,FLJ33951 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 13
Band: 7p12.3
Quick LinksEntrez ID:154664; OMIM: 607807; Uniprot ID:ABCAD_HUMAN; ENSEMBL ID: ENSG00000179869
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 (1) 0 (0) 1 (4) 1 (1) 0 (0) 1 (1) 10 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
(% Women)
ADI-R ADOS Diagnosis Age
Hussman, 2011_1 Discovery 1 (detail) 597 -
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 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
AutCNV0000255 7 7p11.2-14.1 gain 1 - CNVs Only Present In Patients; Wolpert, 2001
AutCNV0001255 7 7p12.3 loss 1 - maternal Pinto, 2010
AutCNV0000884 7 7p12.3 loss 1 - maternal Pinto, 2010
AutCNV0003603 7 7p12.3 loss 1 - maternal Gai, 2011
AutCNV0003930 7 7p12.3 loss 1 - CNVs Only Present In Patients; Levy, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000145 7p11.2-14.1 7 - - 3.18 - Allen-Brady, 2008

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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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