EWSR1/CREB1 Fusion Gene

Preferred Label : EWSR1/CREB1 Fusion Gene;

NCIt synonyms : EWSR1-CREB1 Fusion Gene; EWS-CREB1 Fusion Gene; EWS/CREB1 Fusion Gene; EWSR1::CREB1 Fusion Gene;

NCIt related terms : EWSR1-CREB1;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;22)(q34;q12) which fuses the first 7 exons of the EWSR1 gene to the 5' side of exon 7 of the CREB1 gene. This rearrangement is associated with angiomatoid fibrous histiocytoma and rare cases of malignant clear cell sarcoma of the soft tissue.;

Details

Origin ID

C99249;

UMLS CUI

C3274636;

Automatic exact mappings (from CISMeF team)
- Ews rna-binding protein 1 [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/CREB1 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(2;22)(q33;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-CREB1 Fusion Protein Expression [NCIt concept]
- t(2;22)(q33;q12) [NCIt concept]
- t(2;22)(q34;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Gastrointestinal Clear Cell Sarcoma/Malignant Gastrointestinal Neuroectodermal Tumor [NCIt concept]
- Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive [NCIt concept]
- Primary Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Fusion [NCIt concept]
gene_mapped_to_disease
- Adult Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Advanced Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Childhood Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Childhood Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Gastrointestinal Clear Cell Sarcoma/Malignant Gastrointestinal Neuroectodermal Tumor [NCIt concept]
- Metastatic Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Primary Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Fusion [NCIt concept]
- Recurrent Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Refractory Clear Cell Sarcoma of Soft Tissue [NCIt concept]
related_to_genetic_biomarker
- CREB1 Gene [NCIt concept]
- EWSR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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