SFPQ/TFE3 Fusion Gene

Preferred Label : SFPQ/TFE3 Fusion Gene;

NCIt synonyms : SFPQ-TFE3 Fusion Gene; PSF-TFE3 Fusion Gene; PSF/TFE3 Fusion Gene; TFE3/SFPQ Fusion Gene; SFPQ::TFE3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(X;1)(p11.2;p34) which fuses almost the entire coding sequence of the SFPQ gene to the 3' half of the TFE gene. This fusion is associated with renal cell carcinoma.;

Details

Origin ID

C99690;

UMLS CUI

C1854588;

Automatic exact mappings (from CISMeF team)
- Splicing factor, proline- and glutamine-rich [OMIM gene]
- Transcription factor for immunoglobulin heavy-chain enhancer 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]
gene_encodes_gene_product
- SFPQ/TFE3 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(X;1)(p11.2;p34) [NCIt concept]
gene_involved_in_molecular_abnormality
- PSF-TFE3 Fusion Protein Expression [NCIt concept]
- t(X;1)(p11.2;p34) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) [NCIt concept]
gene_mapped_to_disease
- Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) [NCIt concept]
related_to_genetic_biomarker
- SFPQ Gene [NCIt concept]
- TFE3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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