AutismKB 2.0

Variant Details for UBE3A


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Basic Information Top
Gene Symbol:UBE3A ( ANCR,AS,E6-AP,EPVE6AP,FLJ26981,HPVE6A )
Gene Full Name: ubiquitin protein ligase E3A
Band: 15q11.2
Quick LinksEntrez ID:7337; OMIM: 601623; Uniprot ID:UBE3A_HUMAN; ENSEMBL ID: ENSG00000114062; HGNC ID: 12496
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 36 0 0 1 2 0 39
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
AutCNV0000298 15 15q11-12 25257404 29097694 3840290 gain external link Mann, 2004
AutCNV0000297 15 15q11-12 25257404 29789038 4531634 gain external link Mann, 2004
AutCNV0000288 15 15p11-q13 20330217 28910301 8580084 gain external link Sahoo, 2005
AutCNV0000287 15 15p11-q13 20330217 32990417 12660200 gain external link Sahoo, 2005
AutCNV0000286 15 15q11-13 23577903 28910301 5332398 gain external link Sahoo, 2005
AutCNV0000285 15 15q11-13 22646195 28910301 6264106 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
AutCNV0000046 15 15q11.2-12 23939207 28024805 4085598 gain external link Szatmari, 2007
AutCNV0000025 15 15q11.2-12 23939207 28024805 4085598 gain external link Szatmari, 2007
AutCNV0000268 15 15q11-13 25257428 33573585 8316157 gain external link Kwasnicka-Crawford, 2007
AutCNV0000010 15 15q11-13.33 20266957 32969479 12702522 gain external link Sebat, 2007
AutCNV0000016 15 15q11-13 gain Weiss, 2008
AutCNV0000226 15 15q11-13 22646319 28396011 5749692 gain external link Christian, 2008
AutCNV0000225 15 15q11-13 22877142 28396011 5518869 gain external link Christian, 2008
AutCNV0000224 15 15q11-13 22424462 28396011 5971549 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
AutCNV0000676 15 15q11-13 gain Bremer, 2009
AutCNV0000588 15 15q11.2-13.1 23807110 28350019 4542909 gain external link Gregory, 2009
AutCNV0000824 15 15q11.2-13.1 23639183 28530359 4891176 gain external link Pinto, 2010
AutCNV0004316 15 15q11.2-q13.1 23688944 28422026 4733082 gain external link Sanders, 2011
AutCNV0004315 15 15q11.2-q13.1 23639183 28530359 4891176 gain external link Sanders, 2011
AutCNV0004314 15 15q11.2-q13.1 22265649 28460519 6194870 gain external link Sanders, 2011
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
AutCNV0003836 15 15q11.2-q13.1 23673045 28639666 4966621 gain external link Levy, 2011
AutCNV0004957 6 57858800 57886649 27849 gain external link Brand H, 2015
AutCNV0005921 15 15q11.2-q13.1 22829901 28338000 5508099 gain external link Brandler WM, 2018
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
No related data!
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
chr15 25601941 G p.A619fs Y Yuen RK, 2015
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Smith, 2011
T C Kelleher lii, 2012
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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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