EWSR1/ATF1 Fusion Gene Type 1

Preferred Label : EWSR1/ATF1 Fusion Gene Type 1;

NCIt synonyms : EWS/ATF1 Fusion Gene Type 1; EWSR1-ATF1 Fusion Gene Type 1; EWS-ATF1 Fusion Gene Type 1; EWSR1::ATF1 Fusion Gene Type 1;

NCIt definition : A fusion gene ( 3.3 kb) that results from a chromosomal translocation t(12;22)(q13;q12) which fuses the first 8 exons of the EWSR1 gene on the 5' side of exon 4 of the ATF1 gene. This rearrangement is associated with both malignant clear cell sarcoma of the soft tissue and angiomatoid fibrous histiocytoma.;

GenBank Accession Number : JF290487;

Details

Origin ID

C99219;

UMLS CUI

C3274615;

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]
gene_encodes_gene_product
- EWSR1/ATF1 Fusion Protein Type 1 [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_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]
- Hyalinizing Clear Cell Carcinoma [NCIt concept]
- Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive [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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