EWSR1/POU5F1 Fusion Gene

Preferred Label : EWSR1/POU5F1 Fusion Gene;

NCIt synonyms : EWS-POU5F1 Fusion Gene; POU5F1/EWS Fusion Gene; EWS/POU5F1 Fusion Gene; EWSR1-POU5F1 Fusion Gene; EWSR1::POU5F1 Fusion Gene;

NCIt related terms : EWSR1-POU5F1;

NCIt definition : A fusion gene that results from a chromosomal translocation t(6;22)(p21;q12) which fuses the first six exons of the EWSR1 gene to exon 2 of the POU5F1 gene. This rearrangement is associated with hidradenoma and one case of mucoepidermoid carcinoma of the salivary glands.;

Details

Origin ID

C99256;

UMLS CUI

C2675457;

Automatic exact mappings (from CISMeF team)
- Ews rna-binding protein 1 [OMIM gene]
- Pou domain, class 5, transcription factor 1 [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]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
gene_encodes_gene_product
- EWSR1/POU5F1 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(6;22)(p21;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- t(6;22)(p21;q12) [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- POU5F1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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