ASPSCR1-TFE3 Fusion Protein Expression

Preferred Label : ASPSCR1-TFE3 Fusion Protein Expression;

NCIt synonyms : RCC17-TFE3 Fusion Protein Expression; ASPL-TFE3 Fusion Protein Expression; ASPSCR1/TFE3 Fusion Protein Expression; ASPL/TFE3 Fusion Protein Expression;

NCIt definition : A molecular abnormality characterized by the expression of a fusion protein that results from chromosomal recombination involving the human genes ASPSCR1 and TFE3. This abnormal protein is associated with alveolar soft part sarcomas and primary renal tumors.;

Details

Origin ID

C37248;

UMLS CUI

C1510695;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
may_be_cytogenetic_abnormality_of_disease
- Adult Alveolar Soft Part Sarcoma [NCIt concept]
- Advanced 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]
molecular_abnormality_involves_gene
- ASPSCR1 Gene [NCIt concept]
- ASPSCR1/TFE3 Fusion Gene [NCIt concept]
- TFE3 Gene [NCIt concept]

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