AutismKB

Evidence Detail for UBE2H


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Basic Information Top
Gene Symbol:UBE2H ( E2-20K,UBC8,UBCH,UBCH2 )
Gene Full Name: ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
Band: 7q32
Quick LinksEntrez ID:7328; OMIM: 601082; Uniprot ID:UBE2H_HUMAN; ENSEMBL ID: ENSG00000186591
Sequences Top
>UBE2H|7328|nucleotide
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>UBE2H|7328|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 1 (3) 1 (2) 0 (0) 4 (7)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Vourc, 2003_1 France 1 (detail) 34
(-)
ASD -
(4-38)
- 100
(-)
-
-
Vourc, 2003_2 France 1 (detail) 26
(-)
ASD -
(4-38)
- 100
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000065 7q32 7 D7S530 - - 0.0006 Schellenberg, 2006
AutLD0000077 7q32.1-32.3 7 D7S530/D7S640 2.31 - - Lamb, 2005
AutLD0000153 7q31.31-q32.3 7 rs1990790 1.97 - - 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
  • Click to Download Data

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