ASPSCR1/TFE3 Fusion Gene

Preferred Label : ASPSCR1/TFE3 Fusion Gene;

NCIt synonyms : ASPSCR1-TFE3 Fusion Gene; ASPL-TFE3 Fusion Gene; ASPL/TFE3 Fusion Gene; ASPSCR1::TFE3 Fusion Gene;

NCIt definition : A fusion gene that results from chromosomal translocation t(X;17)(p11.2;q25) or der(X)t(X;17)(p11;q25) which fuses the 5' half of the ASPSCR1 gene to either exon 3 or 4 of the TFE gene. This fusion is associated with both alveolar soft part sarcoma and primary renal tumor.;

Details

Origin ID

C99705;

UMLS CUI

C3888091;

Automatic exact mappings (from CISMeF team)
- Aspscr1 tether for slc2a4, ubx domain-containing [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
- ASPSCR1/TFE3 Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- ASPL-TFE3 Fusion Protein Expression [NCIt concept]
- t(X;17)(p11.2;q25) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Alveolar Soft Part Sarcoma [NCIt concept]
gene_mapped_to_disease
- Adult Alveolar Soft Part Sarcoma [NCIt concept]
- Advanced Alveolar Soft Part Sarcoma [NCIt concept]
- Alveolar Soft Part Sarcoma [NCIt concept]
- Bladder Alveolar Soft Part Sarcoma [NCIt concept]
- Cervical Alveolar Soft Part Sarcoma [NCIt concept]
- Childhood Alveolar Soft Part Sarcoma [NCIt concept]
- Localized Alveolar Soft Part Sarcoma [NCIt concept]
- Locally Advanced Alveolar Soft Part Sarcoma [NCIt concept]
- Lung Alveolar Soft Part Sarcoma [NCIt concept]
- Metastatic Alveolar Soft Part Sarcoma [NCIt concept]
- Orbital Alveolar Soft Part Sarcoma [NCIt concept]
- Recurrent Alveolar Soft Part Sarcoma [NCIt concept]
- Refractory Alveolar Soft Part Sarcoma [NCIt concept]
- Tongue Alveolar Soft Part Sarcoma' [NCIt concept]
- Unresectable Alveolar Soft Part Sarcoma [NCIt concept]
- Vulvar Alveolar Soft Part Sarcoma [NCIt concept]
related_to_genetic_biomarker
- ASPSCR1 Gene [NCIt concept]
- TFE3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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