EWSR1/SMAD3 Fusion Gene

Preferred Label : EWSR1/SMAD3 Fusion Gene;

NCIt synonyms : EWS RNA-Binding Protein 1/Mothers Against Decapentaplegic Homolog 3 Fusion Gene; EWS RNA-Binding Protein 1-Mothers Against Decapentaplegic Homolog 3 Fusion Gene; EWSR1-SMAD3 Fusion Gene; EWSR1::SMAD3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(15;22)(q22.33;q12.2) which fuses exon 7 of the EWSR1 gene upstream of exon 5 of the SMAD3 gene. This rearrangement is associated with acral spindle cell and fibroblastic tumors.;

NCI Metathesaurus CUI : CL1643082;

PubMed : 29309308;

Details

Origin ID

C177260;

UMLS CUI

C5447654;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- EWSR1/SMAD3 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- EWSR1-SMAD3-Positive Fibroblastic Tumor [NCIt concept]
gene_mapped_to_disease
- Childhood EWSR1-SMAD3-Positive Fibroblastic Tumor [NCIt concept]
- EWSR1-SMAD3-Positive Fibroblastic Tumor [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- SMAD3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients