AutismKB

Evidence Detail for APBA2


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Basic Information Top
Gene Symbol:APBA2 ( D15S1518E,HsT16821,LIN-10,MGC99508,MGC:14091,MINT2,X11L )
Gene Full Name: amyloid beta (A4) precursor protein-binding, family A, member 2
Band: 15q11-q12
Quick LinksEntrez ID:321; OMIM: 602712; Uniprot ID:APBA2_HUMAN; ENSEMBL ID: ENSG00000034053
Sequences Top
>APBA2|321|nucleotide
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>APBA2|321|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) 3 (19) 1 (1) 0 (1) 1 (1) 14 (4)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Kato, 2008_1 Japan 5 (detail) 166
(11.45%)
ASD 19.9±9.8
-
- 415
(66.75%)
36±11.5
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Babatz, 2009_1 human ---autism genetics: mutation screen
  • Subjects: 512 autism probands for study including 428 from multiplex families and 84 from simplex families from AGRE & NIMH
  • Normal Controls: 463 control samples from NIMH
  • Methods: PCR, sequence
  • Evidence Details: we report the results of sequencing the coding regions of APBA2 in 512 subjects with ASD and 463 controls, finding 7 autism-specific and 4 control-specific nonsynonymous sequence changes including two sibs with compound heterozygous nonsynonymous sequence changes.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000010 15 15q11-13.33 gain 1 - Denovo CNVs; Sebat, 2007
AutCNV0000016 15 15q11-13 gain 5 - Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000133 15 15q11-13 gain 1 - Denovo CNVs; Jacquemont, 2006
AutCNV0000148 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000181 15 15q11.2-q13.3 gain 1 - Other; Denovo CNVs; Marshall, 2008
AutCNV0000228 15 15q13.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000258 15 15q11-13 gain 1 - CNVs Only Present In Patients; Silva, 2002
AutCNV0000268 15 15q11-13 gain 1 - Denovo CNVs; Kwasnicka-Crawford, 2007
AutCNV0000272 15 15q11.2-13 loss 2 - Overlapping/Recurrent CNVs; Wassink, 2001
AutCNV0000273 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000279 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2007
AutCNV0000280 15 15q11-13 gain 1 0 CNVs Only Present In Patients; Bolton, 2004
AutCNV0000284 15 15q11-13 gain 3 - Overlapping/Recurrent CNVs; Wolpert, 2000
AutCNV0000287 15 15p11-q13 gain 4 - Overlapping/Recurrent CNVs; Sahoo, 2005
AutCNV0000290 15 15q11-13 gain 1 - CNVs Only Present In Patients; Keller, 2003
AutCNV0000297 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000424 15 15q13.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000589 15 15q13.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000676 15 15q11-13 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2009
AutCNV0000844 15 15q13.1-13.3 loss 1 - maternal Pinto, 2010
AutCNV0000953 15 15q13.1-13.2 gain 1 - paternal Pinto, 2010
AutCNV0003714 15 15q13.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004311 15 15q11.1-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004313 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000155 15q13.1-q14 15 rs8033248 4.09 - - Allen-Brady, 2010

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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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