UBE2T |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- UBE2T (HGNC:25009) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ubiquitin conjugating enzyme E2 T
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- HSPC150, FANCT
- %HI
- 19.95(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.08(Read more about gnomAD pLI score)
- LOEUF
- 0.84(Read more about gnomAD LOEUF score)
- Cytoband
- 1q32.1
- Genomic Coordinates
-
GRCh37/hg19: chr1:202300785-202311064 NCBI Ensembl UCSC GRCh38/hg38: chr1:202331657-202341936 NCBI Ensembl UCSC - MANE Select Transcript
- NM_014176.4 ENST00000646651.1 (Read more about MANE Select)
- Function
- Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784, PubMed:28437106). Also mediates monoub... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2773
ClinGen Curation ID:
CCID:008076
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/01/2020
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Fanconi anemia complementation group T Monarch
HI Evidence Comments:
Biallelic variants of UBE2T, including compound heterozygous variants have been identified with Fanconi anemia, complementation group T (FANCT), an autosomal recessive condition.
Virts et al 2015 (PMID: 26085575): Analysis of germline DNA of 814 normal individuals identified the heterozygous aluY-mediated deletion of UBE2T exons 2-6 in two normal individuals. Duplication of exons 2-6 were not found in normal individuals. They also tested 850 breast cancer patients who are German, and did not find any patient with either deletion or duplication of exons 2–6 in UBE2T. This suggesting aluY-mediated recombinations within the UBE2T locus are rare and not associated with an increased breast cancer risk.
To further define the role of UBE2T germline mutations in patients with breast/ovarian cancer, they performed WES on 450 BRCA1/2 WT high-risk breast cancer patients. In a female patient <50 years of age, a novel frameshift mutation in UBE2T, c.415_418insAGCC, was detected and confirmed by amplicon resequencing. In summary, UBE2T might be a rare cancer susceptibility gene, but there is not enough evidence so far.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence for triplosensitivity
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)