FN1/FGFR1 Fusion Gene

Preferred Label : FN1/FGFR1 Fusion Gene;

NCIt synonyms : FN1-FGFR1 Fusion Gene; Fibronectin 1/Fibroblast Growth Factor Receptor 1 Fusion Gene; Fibronectin 1-Fibroblast Growth Factor Receptor 1 Fusion Gene; FN1::FGFR1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;8)(q35;p11) which fuses exon 22, 23, 26 or 28 of the FN1 gene with exon 3, 4 or 5 of the FGFR1 gene. This rearrangement is associated with phosphaturic mesenchymal tumor.;

NCI Metathesaurus CUI : CL1647804;

PubMed : 27443518;

Details

Origin ID

C178364;

UMLS CUI

C5557508;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- FN1/FGFR1 Fusion Protein [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Phosphaturic Mesenchymal Tumor [NCIt concept]
gene_mapped_to_disease
- Appendicular Skeleton Phosphaturic Mesenchymal Tumor [NCIt concept]
- Benign Phosphaturic Mesenchymal Tumor [NCIt concept]
- Head and Neck Phosphaturic Mesenchymal Tumor [NCIt concept]
- Malignant Phosphaturic Mesenchymal Tumor [NCIt concept]
- Phosphaturic Mesenchymal Tumor [NCIt concept]
related_to_genetic_biomarker
- FGFR1 Gene [NCIt concept]
- FN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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