EWSR1/SP3 Fusion Gene

Preferred Label : EWSR1/SP3 Fusion Gene;

NCIt synonyms : EWS-SP3 Fusion Gene; EWS/SP3 Fusion Gene; EWSR1-SP3 Fusion Gene; SP3/EWS Fusion Gene; EWSR1::SP3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;22)(q31;q12) which fuses exon 7 of the EWSR1 gene to exon 6 of the SP3 gene. This rearrangement is associated with small round cell tumor.;

Details

Origin ID

C99510;

UMLS CUI

C2677189;

Automatic exact mappings (from CISMeF team)
- Transcription factor sp3 [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]
gene_encodes_gene_product
- EWSR1/SP3 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- SP3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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