Human Gene Module / Chromosome 7 / UBE2H

UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
0 / 2
Aliases
UBE2H, E2-20K,  UBC8,  UBCH,  UBCH2
Associated Syndromes
-
Chromosome Band
7q32.2
Associated Disorders
-
Relevance to Autism

Genetic association has been found between the UBE2H gene and autism in a French-Caucasian cohort (Vourc'h et al., 2003).

Molecular Function

The encoded protein has ubiquitin-protein ligase activity.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to UBE2H (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder Vourc'h P , et al. (2003) Yes -
2 Positive Association Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017) Yes -
Rare Variants  

No rare variants reported.

Common Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.-1756T>C;c.-1925T>C - 2KB_upstream_variant - - - 28540026 Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017)
c.126A>G;c.336A>G;c.243A>G p.(=) synonymous_variant - - - 14639049 Vourc'h P , et al. (2003)
SFARI Gene score
2

Strong Candidate

Association and linkage evidence exists for the UBE2H gene and autism. For example, genetic association has been found in a French-Caucasian autism cohort (Vourc'h et al., 2003).

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
3
icon
2

Decreased from 3 to 2

Description

Association and linkage evidence exists for the UBE2H gene and autism. For example, genetic association has been found in a French-Caucasian autism cohort (Vourc'h et al., 2003).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

Association and linkage evidence exists for the UBE2H gene and autism. For example, genetic association has been found in a French-Caucasian autism cohort (Vourc'h et al., 2003).

Reports Added
[New Scoring Scheme]
4/1/2017
4
icon
4

Decreased from 4 to 4

Description

Association and linkage evidence exists for the UBE2H gene and autism. For example, genetic association has been found in a French-Caucasian autism cohort (Vourc'h et al., 2003).

Reports Added
[Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.2003] [Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...2017]
7/1/2014
No data
icon
4

Increased from No data to 4

Description

Association and linkage evidence exists for the UBE2H gene and autism. For example, genetic association has been found in a French-Caucasian autism cohort (Vourc'h et al., 2003).

4/1/2014
No data
icon
4

Increased from No data to 4

Description

Association and linkage evidence exists for the UBE2H gene and autism. For example, genetic association has been found in a French-Caucasian autism cohort (Vourc'h et al., 2003).

Krishnan Probability Score

Score 0.44589197812283

Ranking 15142/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 0.9709717394594

Ranking 2340/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Sanders TADA Score

Score 0.91487512815963

Ranking 8232/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Larsen Cumulative Evidence Score

Score 0.5

Ranking 439/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Original Source
Zhang D Score

Score -0.019679832668109

Ranking 9345/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Original Source
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase Human Protein Binding 493829 Q6ZMU5
Submit New Gene

Report an Error