AHRR/NCOA2 Fusion Gene

Preferred Label : AHRR/NCOA2 Fusion Gene;

NCIt synonyms : Aryl-Hydrocarbon Receptor Repressor-Nuclear Receptor Coactivator 2 Fusion Gene; AHRR-NCOA2 Fusion Gene; Aryl-Hydrocarbon Receptor Repressor/Nuclear Receptor Coactivator 2 Fusion Gene; AHRR::NCOA2 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(5;8)(p15;q13) which fuses the 5' half of the coding region of the AHRR gene with intron 14 or in frame with exon 14, 15, or 16 of the NCOA2 gene. This fusion is associated with angiofibroma of soft tissue.;

NCI Metathesaurus CUI : CL1643299;

Details

Origin ID

C177422;

UMLS CUI

C5447753;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- AHRR/NCOA2 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(5;8)(p15;q13) [NCIt concept]
gene_involved_in_molecular_abnormality
- t(5;8)(p15;q13) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Angiofibroma of Soft Tissue [NCIt concept]
gene_mapped_to_disease
- Angiofibroma of Soft Tissue [NCIt concept]
related_to_genetic_biomarker
- AHRR Gene [NCIt concept]
- NCOA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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