EWSR1/PBX1 Fusion Gene

Preferred Label : EWSR1/PBX1 Fusion Gene;

NCIt synonyms : EWS-PBX1 Fusion Gene; EWSR1-PBX1 Fusion Gene; EWS/PBX1 Fusion Gene; EWSR1::PBX1 Fusion Gene;

NCIt related terms : EWSR1-PBX1;

NCIt definition : A fusion gene that results from a chromosomal translocation t(1;22)(q23;q12) which fuses exon 8 of the EWSR1 gene to exon 5 of the PBX1 gene. This fusion may be associated with myoepithelioma.;

NCI Metathesaurus CUI : CL537849;

PubMed : 18383210;

Details

Origin ID

C139668;

UMLS CUI

C4682436;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
gene_encodes_gene_product
- EWSR1/PBX1 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(1;22)(q23;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- t(1;22)(q23;q12) [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- PBX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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