AutismKB

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
>ABCA13|154664|nucleotide
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>ABCA13|154664|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 (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
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
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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