CCND1/IGHG1 Fusion Gene

Preferred Label : CCND1/IGHG1 Fusion Gene;

NCIt synonyms : CCND1-IGHG1 Fusion Gene; BCL1-IGHG1 Fusion Gene; IGHG1/CCND1 Fusion Gene; CCND1::IGHG1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;14)(q13;q32) which places the CCND1 gene on the 5' side of the joining segment of the immunoglobulin G heavy chain locus IGHG1 gene. This rearrangement is associated with numerous B-cell malignancies.;

NCIt note : This translocation allows the expression of the CCND1 gene to be controlled by the IgG heavy chain promoter, which causes overexpression of the G1/S-specific cyclin-D1 protein.;

Details

Origin ID

C99367;

UMLS CUI

C1868611;

Automatic exact mappings (from CISMeF team)
- Cyclin d1 [OMIM gene]
- Igg heavy chain locus [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_has_abnormality
- t(11;14)(q13;q32) [NCIt concept]
genetic_biomarker_related_to
- CCND1/IGHG1 Fusion Negative [NCIt concept]
related_to_genetic_biomarker
- CCND1 Gene [NCIt concept]
- IGHG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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