AutismKB 2.0

Variant Details 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: 15q13.1
Quick LinksEntrez ID:321; OMIM: 602712; Uniprot ID:APBA2_HUMAN; ENSEMBL ID: ENSG00000034053; HGNC ID: 579
Relate to Another Database: SFARIGene; denovo-db
Variant 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. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 27 1 0 0 1 1 30
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000284 15 15q11-13 gain Wolpert, 2000
AutCNV0000273 15 15q11.2-13 gain Wassink, 2001
AutCNV0000272 15 15q11.2-13 loss Wassink, 2001
AutCNV0000258 15 15q11-13 gain Silva, 2002
AutCNV0000290 15 15q11-13 gain Keller, 2003
AutCNV0000297 15 15q11-12 25257404 29789038 4531634 gain external link Mann, 2004
AutCNV0000280 15 15q11-13 26434396 30162567 3728171 gain external link Bolton, 2004
AutCNV0000287 15 15p11-q13 20330217 32990417 12660200 gain external link Sahoo, 2005
AutCNV0000133 15 15q11-13 25184942 31748742 6563800 gain external link Jacquemont, 2006
AutCNV0000279 15 15q11.2-13 gain Wassink, 2007
AutCNV0000010 15 15q11-13.33 20266957 32969479 12702522 gain external link Sebat, 2007
AutCNV0000268 15 15q11-13 25257428 33573585 8316157 gain external link Kwasnicka-Crawford, 2007
AutCNV0000228 15 15q13.1 29212398 29501181 288783 gain external link Christian, 2008
AutCNV0000181 15 15q11.2-q13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 20167086 32511555 12344469 gain external link Marshall, 2008
AutCNV0000148 15 15q11.2-13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000016 15 15q11-13 gain Weiss, 2008
AutCNV0000676 15 15q11-13 gain Bremer, 2009
AutCNV0000589 15 15q13.1 28130451 29313054 1182603 gain external link Gregory, 2009
AutCNV0000424 15 15q13.1 28999241 32414903 3415662 loss external link Gregory, 2009
AutCNV0000953 15 15q13.1-13.2 29088774 30369914 1281140 gain external link Pinto, 2010
AutCNV0000844 15 15q13.1-13.3 28963100 32648871 3685771 loss external link Pinto, 2010
AutCNV0004313 15 15q11.2-q13.3 20266957 32969479 12702522 gain external link Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 20167086 32511555 12344469 gain external link Sanders, 2011
AutCNV0004311 15 15q11.1-q13.3 20116186 32511508 12395322 gain external link Sanders, 2011
AutCNV0003714 15 15q13.1 29360401 29450276 89875 gain external link Gai, 2011
AutCNV0005627 15 15 gain Mercati O, 2017
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
15 29346334 G A Sanger sequencing deleterious0.879 Yuen RK, 2016
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Babatz, 2009
Linkage Regions 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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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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