FOXO1/PAX3 Fusion Gene

Preferred Label : FOXO1/PAX3 Fusion Gene;

NCIt synonyms : FKHR/PAX3 Fusion Gene; FKHR-PAX3 Fusion Gene; FOXO1-PAX3 Fusion Gene; FOXO1::PAX3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;13)(q35;q14) which fuses intron 1 of the FOXO1 gene with intron 7 of the PAX3 gene. This rearrangement is associated with alveolar rhabdomyosarcoma.;

NCIt note : The FOXO1/PAX3 fusion gene is not detectable in 10% of PAX3/FOXO1 fusion gene positive tumors. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99716;

UMLS CUI

C1847791;

Automatic exact mappings (from CISMeF team)
- Forkhead box o1a [OMIM gene]
- Paired box gene 3 [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]
related_to_genetic_biomarker
- FOXO1 Gene [NCIt concept]
- PAX3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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