FUS/ATF1 Fusion Gene

Preferred Label : FUS/ATF1 Fusion Gene;

NCIt synonyms : FUS-ATF1 Fusion Gene; ATF1/FUS Fusion Gene; FUS::ATF1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;16)(q13;p11) which fuses the first 5 exons of the FUS gene on the 5' side of exon 5 of the ATF1 gene. This rearrangement is associated with angiomatoid fibrous histiocytoma.;

NCIt note : The ATF1 gene is transcribed from centromere to telomere, while the transcription of FUS proceeds in the opposite direction. The formation of FUS/ATF1 is possible only if another genomic aberration, such as an inversion, occurs in addition to the chromosomal translocation. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99277;

UMLS CUI

C1852405;

Automatic exact mappings (from CISMeF team)
- Activating transcription factor 1 [OMIM gene]
- Fus rna-binding protein [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]
gene_encodes_gene_product
- FUS/ATF1 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(12;16)(q13;p11) [NCIt concept]
gene_involved_in_molecular_abnormality
- FUS-ATF1 Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive [NCIt concept]
gene_mapped_to_disease
- Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Childhood Angiomatoid Fibrous Histiocytoma [NCIt concept]
related_to_genetic_biomarker
- ATF1 Gene [NCIt concept]
- FUS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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