BCOR/CCNB3 Fusion Gene

Preferred Label : BCOR/CCNB3 Fusion Gene;

NCIt synonyms : BCL6 Corepressor/Cyclin B3 Fusion Gene; BCOR-CCNB3 Fusion Gene; BCOR::CCNB3 Fusion Gene;

NCIt related terms : CCNB3-BCOR;

NCIt definition : A fusion gene that results from a paracentric chromosomal inversion inv(X)(p11.4;p11.22) which fuses the stop codon of the BCOR gene to exon 5 of the CCNB3 gene. This fusion is associated with bone sarcomas.;

NCI Metathesaurus CUI : CL537851;

Details

Origin ID

C139666;

UMLS CUI

C3550814;

Automatic exact mappings (from CISMeF team)
- Bcl6 corepressor [OMIM gene]
- Cyclin b3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
gene_encodes_gene_product
- BCOR/CCNB3 Fusion Protein [NCIt concept]
gene_has_abnormality
- inv(X)(p11.4;p11.22) [NCIt concept]
gene_involved_in_molecular_abnormality
- BCOR-CCNB3 Fusion Protein Expression [NCIt concept]
- inv(X)(p11.4;p11.22) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- BCOR-CCNB3 Sarcoma [NCIt concept]
gene_mapped_to_disease
- BCOR-CCNB3 Sarcoma [NCIt concept]
- Clear Cell Sarcoma of the Kidney [NCIt concept]
related_to_genetic_biomarker
- BCOR Gene [NCIt concept]
- CCNB3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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