EWSR1/ATF1 Fusion Gene

Preferred Label : EWSR1/ATF1 Fusion Gene;

NCIt synonyms : ATF1/EWS Fusion Gene; ATF1-EWSR1 Fusion Gene; EWS-ATF1 Fusion Gene; EWSR1-ATF1 Fusion Gene; EWS/ATF1 Fusion Gene; EWSR1::ATF1 Fusion Gene;

NCIt related terms : EWSR1-ATF1;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;22)(q13;q12) which fuses the first 7 or 8 exons of the EWSR1 gene on the 5' side of exon 4 or 5 of the ATF1 gene. This rearrangement is associated with both malignant clear cell sarcoma of the soft tissue and angiomatoid fibrous histiocytoma.;

NCIt note : There are at least seven EWSR1/ATF1 fusion gene variants. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99216;

UMLS CUI

C1852404;

Automatic exact mappings (from CISMeF team)
- Activating transcription factor 1 [OMIM gene]
- 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 Disease 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/ATF1 Fusion Protein [NCIt concept]
- EWSR1/ATF1 Fusion Protein Type 1 [NCIt concept]
- EWSR1/ATF1 Fusion Protein Type 2 [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(12;22)(q13.12;q12) [NCIt concept]
- t(12;22)(q13;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-ATF1 Fusion Protein Expression [NCIt concept]
- t(12;22)(q13.12;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Gastrointestinal Clear Cell Sarcoma/Malignant Gastrointestinal Neuroectodermal Tumor [NCIt concept]
- Hyalinizing Clear Cell Carcinoma [NCIt concept]
- Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive [NCIt concept]
gene_mapped_to_disease
- Adult Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Advanced Clear Cell Sarcoma of Soft Tissue [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]
- Hyalinizing Clear Cell Carcinoma [NCIt concept]
- Lung Hyalinizing Clear Cell Carcinoma [NCIt concept]
- Metastatic Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Recurrent Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Refractory Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Salivary Gland Hyalinizing Clear Cell Carcinoma [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
related_to_genetic_biomarker
- ATF1 Gene [NCIt concept]
- EWSR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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