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 Links	Entrez ID:7337; OMIM: 601623; Uniprot ID:UBE3A_HUMAN; ENSEMBL ID: ENSG00000114062

Sequences Top

nucleotide Sequence
Protein Sequence

>UBE3A|7337|nucleotide
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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.

Inheritance	AD
OMIM	Angelman syndrome (105830)
Description	Angelman 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;
Level	Level 4: The disorder is a generally acknowledged ASD related disorder.

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 3

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Nurmi, 2003_1	England	7 (detail)	142	142 (-)			AD	> 4 -	- -
Curran, 2006_1	Unknown	5 (detail)	148	- (-)			ASD	7.75±3.08 -	- -
Guffanti, 2010_1	Italia	1 (detail)	73	79 (16.46%)			autism	6.5±1.5 -	- -

Case Control Based Association Studies: 1

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

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
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	blood			ASD	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	1.6e-09
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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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
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
AutCNV0004957	15	15q11.2	Gain	5	0	Overlapping/Recurrent CNVs; CNVs Not Present In Control;	Bucan, 2009

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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