EWSR1/TFCP2 Fusion Gene

Preferred Label : EWSR1/TFCP2 Fusion Gene;

NCIt synonyms : TFCP2/EWSR1 Fusion Gene; EWSR1-TFCP2 Fusion Gene; EWSR1::TFCP2 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal rearrangement involving the long arms of chromosomes 22 (22q) and 12 (12q) that fuses the first 6 exons of the EWSR1 gene upstream of exon 2 of the TFCP2 gene. This fusion is associated with a subset of rhabdomyosarcomas characterized by TFCP2 rearrangement and poor prognosis.;

NCIt note : EWSR1/TFCP2 fusion protein has not been characterized.;

NCI Metathesaurus CUI : CL1921243;

PubMed : 35768243;

Details

Origin ID

C202284;

UMLS CUI

C5908407;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Rhabdomyosarcoma with TFCP2 Rearrangement [NCIt concept]
gene_mapped_to_disease
- Jaw Rhabdomyosarcoma with TFCP2 Rearrangement [NCIt concept]
- Maxillofacial Rhabdomyosarcoma with TFCP2 Rearrangement [NCIt concept]
- Rhabdomyosarcoma with TFCP2 Rearrangement [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- TFCP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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