FUS/CREB3L2 Fusion Gene

Preferred Label : FUS/CREB3L2 Fusion Gene;

NCIt synonyms : FUS/BBF2H7 Fusion Gene; FUS-BBF2H7 Fusion Gene; FUS-CREB3L2 Fusion Gene; CREB3L2/FUS Fusion Gene; FUS::CREB3L2 Fusion Gene;

NCIt related terms : FUS-CREB3L2 Gene Fusion;

NCIt definition : A fusion gene that results from a chromosomal translocation t(7;16)(q33-34;p11) which fuses the first six or seven exons of the FUS gene on the 5' side of exon 5 of the CREB3L2 gene. This rearrangement is associated with low-grade fibromyxoid sarcoma.;

Détails

Origin ID

C99283;

UMLS CUI

C1850932;

Automatic exact mappings (from CISMeF team)
- Camp response element-binding protein 3-like 2 [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/CREB3L2 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
gene_involved_in_molecular_abnormality
- FUS-CREB3L2 Fusion Protein Expression [NCIt concept]
- t(7;16)(q33;p11) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Low Grade Fibromyxoid Sarcoma [NCIt concept]
gene_mapped_to_disease
- Childhood Low Grade Fibromyxoid Sarcoma [NCIt concept]
- Classical Low Grade Fibromyxoid Sarcoma [NCIt concept]
- Low Grade Fibromyxoid Sarcoma [NCIt concept]
- Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes [NCIt concept]
related_to_genetic_biomarker
- CREB3L2 Gene [NCIt concept]
- FUS Gene [NCIt concept]

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