AutismKB


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Evidence Detail 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
Sequences Top
>UBE3A|7337|nucleotide
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>UBE3A|7337|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) Yes 0 (0) 1 (1) 3 (20) 0 (0) 1 (4) 1 (2) 17 (8)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMAngelman syndrome (105830)
DescriptionAngelman syndrome is an imprinting disorder caused by maternal deletion of chromosome 15, paternal uniparental disomy, imprinting defect, or UBE3A mutation. Over one-half of the patients with Angelman syndrome have ASD
Reference(s)17415598; 16183798; 15165432; 21831244;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
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 2 (detail) 166
(11.45%)
ASD 19.9±9.8
-
- 416
(66.59%)
35.9±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
Smith, 2011_1 mouse neurons--- Animal model
  • Subjects: -
  • Normal Controls: -
  • Methods: knock-in mouse
  • Evidence Details: These results suggest that Ube3a gene dosage may contribute to the autism traits of individuals with maternal 15q11-13 duplication and support the idea that increased E3A ubiquitin ligase gene dosage results in reduced excitatory synaptic transmission.
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 1 functional rare mutation was found in ASD case, 0 in control
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_2 America lymphoblastoid cell lines 7
(-)
autism with dup(15q)autism 15
(-)
1.18 Up 0.0000000016
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_130838
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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
AutCNV0000025 15 15q11.2-12 gain 6 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000046 15 15q11.2-12 gain 6 - Overlapping/Recurrent CNVs; Szatmari, 2007
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
AutCNV0000224 15 15q11-13 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000225 15 15q11-13 gain 1 - Denovo CNVs; Christian, 2008
AutCNV0000226 15 15q11-13 gain 1 - Denovo CNVs; 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
AutCNV0000284 15 15q11-13 gain 3 - Overlapping/Recurrent CNVs; Wolpert, 2000
AutCNV0000285 15 15q11-13 gain 3 - Denovo CNVs; Sahoo, 2005
AutCNV0000286 15 15q11-13 gain 1 - CNVs Only Present In Patients; Sahoo, 2005
AutCNV0000287 15 15p11-q13 gain 4 - Overlapping/Recurrent CNVs; Sahoo, 2005
AutCNV0000288 15 15p11-q13 gain 1 - CNVs Only Present In Patients; 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
AutCNV0000298 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000342 15 15q11.2 loss 26 - CNVs Not Present In Control; Denovo CNVs; Bucan, 2009
AutCNV0000588 15 15q11.2-13.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000676 15 15q11-13 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2009
AutCNV0000824 15 15q11.2-13.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0003836 15 15q11.2-q13.1 gain 1 - Denovo CNVs; Levy, 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
AutCNV0004314 15 15q11.2-q13.1 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004315 15 15q11.2-q13.1 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004316 15 15q11.2-q13.1 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004630 15 15q11-13 Gain 4 - CNVs Only Present In Patients; Cai, 2008
Linkage Studies Top

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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
  • Click to Download Data

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