STAT5B/RARA Fusion Gene

Preferred Label : STAT5B/RARA Fusion Gene;

NCIt synonyms : STAT5B-RARA Fusion Gene; STAT5B::RARA Fusion Gene;

NCIt definition : A fusion gene that results from a complex rearrangement of 17q21 that fuses the 5' portion of the STAT5B gene to exon 3 of the RARA gene. This chromosomal aberration may be associated with acute promyelocytic leukemia.;

NCIt note : RARA transcription is centromere to telomere, while STAT5B is telomere to centromere. Therefore, it is suspected that an inversion is involved in the formation of the fusion gene. (Eur J Haematol. 2008; 80: 444-447.);

PubMed : 18221386;

Details

Origin ID

C99666;

UMLS CUI

C1858658;

Automatic exact mappings (from CISMeF team)
- Signal transducer and activator of transcription 5b [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_encodes_gene_product
- STAT5B/RARA Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- STAT5B-RARA Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with STAT5B-RARA [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with STAT5B-RARA [NCIt concept]
related_to_genetic_biomarker
- RARA Gene [NCIt concept]
- STAT5B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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