YAP1/TFE3 Fusion Gene

Preferred Label : YAP1/TFE3 Fusion Gene;

NCIt synonyms : Yes Associated Protein 1/Transcription Factor Binding to IGHM Enhancer 3 Fusion Gene; Yes Associated Protein 1-Transcription Factor Binding to IGHM Enhancer 3 Fusion Gene; YAP1-TFE3 Fusion Gene; YAP1::TFE3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(X;11)(p11;q22) which fuses the exon 1 of the YAP1 gene with exon 4 of the TFE3 gene. This rearrangement is associated with epithelioid hemangioendothelioma.;

NCI Metathesaurus CUI : CL1643445;

PubMed : 23737213;

Details

Origin ID

C177675;

UMLS CUI

C5447937;

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
- YAP1/TFE3 Fusion Protein [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion [NCIt concept]
gene_mapped_to_disease
- Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion [NCIt concept]
related_to_genetic_biomarker
- TFE3 Gene [NCIt concept]
- YAP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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