EWSR1/DDIT3 Fusion Gene

Preferred Label : EWSR1/DDIT3 Fusion Gene;

NCIt synonyms : DDIT3/EWSR1 Fusion Gene; EWS-CHOP Fusion Gene; EWSR1-DDIT3 Fusion Gene; EWS/CHOP Fusion Gene; CHOP/EWS Fusion Gene; EWSR1::DDIT3 Fusion Gene;

NCIt related terms : EWSR1-DDIT3;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;22)(q13;p11) which fuses either the first 7 or the first 10 exons of the EWSR1 gene with exon 2 of the DDIT3 gene. This rearrangement is associated with myxoid liposarcoma.;

Details

Origin ID

C99200;

UMLS CUI

C3149096;

Automatic exact mappings (from CISMeF team)
- Dna damage-inducible transcript 3 [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/DDIT3 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(12;22)(q13.3;q12) [NCIt concept]
- t(12;22)(q13;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-DDIT3 Fusion Protein Expression [NCIt concept]
- t(12;22)(q13.3;q12) [NCIt concept]
- t(12;22;20)(q13;q12;q11) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Myxoid Liposarcoma [NCIt concept]
gene_mapped_to_disease
- Advanced Myxoid Liposarcoma [NCIt concept]
- Metastatic Myxoid Liposarcoma [NCIt concept]
- Myxoid Liposarcoma [NCIt concept]
- Ovarian Myxoid Liposarcoma [NCIt concept]
- Recurrent Myxoid Liposarcoma [NCIt concept]
- Refractory Myxoid Liposarcoma [NCIt concept]
- Unresectable Myxoid Liposarcoma [NCIt concept]
related_to_genetic_biomarker
- DDIT3 Gene [NCIt concept]
- EWSR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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