EWSR1/NR4A3 Fusion Gene

Preferred Label : EWSR1/NR4A3 Fusion Gene;

NCIt synonyms : EWS-TEC Fusion Gene; EWS/NOR1 Fusion Gene; EWS/CHN Fusion Gene; EWS/TEC Fusion Gene; EWS-NR4A3 Fusion Gene; NR4A3/EWS Fusion Gene; EWS-NOR1 Fusion Gene; EWS-CHN Fusion Gene; EWS/NR4A3 Fusion Gene; NR4A3/EWSR1 Fusion Gene; EWSR1-NR4A3 Fusion Gene; EWSR1::NR4A3 Fusion Gene;

NCIt related terms : EWSR1-NR4A3;

NCIt definition : A fusion gene that results from a chromosomal translocation t(9;22)(q22-31;q11-12) which fuses the first half of the EWSR1 gene to the entire coding sequence of the NR4A3 gene. This rearrangement is associated with extraskeletal myxoid chondrosarcomas.;

NCIt note : The Atlas of Genetics and Cytogenetics in Oncology and Haematology reports the translocation breakpoints at t(9;22)(q22;q12).;

Details

Origin ID

C99252;

UMLS CUI

C2675456;

Automatic exact mappings (from CISMeF team)
- Ews rna-binding protein 1 [OMIM gene]
- Nuclear receptor subfamily 4, group a, member 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/NR4A3 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(9;22)(q22-31;q12) [NCIt concept]
- t(9;22)(q22;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-NR4A3 Fusion Protein Expression [NCIt concept]
- t(9;22)(q22;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
gene_mapped_to_disease
- Adult Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Brain Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Childhood Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Conventional Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Head and Neck Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Locally Advanced Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Metastatic Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Orbit Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Recurrent Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
- Refractory Extraskeletal Myxoid Chondrosarcoma [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- NR4A3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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