EWSR1/NFATC2 Fusion Gene

Preferred Label : EWSR1/NFATC2 Fusion Gene;

NCIt synonyms : EWS RNA Binding Protein 1-Nuclear Factor of Activated T Cells 2 Fusion Gene; EWS RNA Binding Protein 1/Nuclear Factor of Activated T Cells 2 Fusion Gene; EWSR1-NFATC2 Fusion Gene; EWSR1::NFATC2 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(20;22)(q13;q12) which fuses exon 8 of the EWSR1 gene with exon 3 of the NFATC2 gene. This rearrangement is associated with round cell sarcoma.;

NCI Metathesaurus CUI : CL1648049;

Details

Origin ID

C178487;

UMLS CUI

C5555075;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- EWSR1/NFATC2 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-NFATC2 Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Round Cell Sarcoma with EWSR1-NFATC2 Gene Fusion [NCIt concept]
- Simple Bone Cyst [NCIt concept]
gene_mapped_to_disease
- Round Cell Sarcoma with EWSR1-NFATC2 Gene Fusion [NCIt concept]
- Simple Bone Cyst [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- NFATC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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