COL1A1/PDGFB Fusion Gene

Preferred Label : COL1A1/PDGFB Fusion Gene;

NCIt synonyms : PDGFB/COL1A1 Fusion Gene; COL1A1-PDGFB Fusion Gene; COL1A1::PDGFB Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(17;22)(q22;q13) and supernumerary ring chromosomes derived from t(17;22) which fuses the COL1A1 gene with exon 2 of the PDGFRB gene. This fusion is associated with Dermatofibrosarcoma protuberans.;

NCIt note : There are multiple possible breakpoints for the COL1A1 gene.;

Details

Origin ID

C99196;

UMLS CUI

C1861000;

Automatic exact mappings (from CISMeF team)
- Collagen, type I, alpha-1 [OMIM Phenotype]
- Platelet-derived growth factor, beta polypeptide [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
- COL1A1/PDGFB Fusion Protein [NCIt concept]
gene_has_abnormality
- t(17;22)(q22;q13) [NCIt concept]
gene_involved_in_molecular_abnormality
- COL1A1-PDGFbeta Fusion Protein Expression [NCIt concept]
- t(17;22)(q22;q13) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Dermatofibrosarcoma Protuberans [NCIt concept]
- Giant Cell Fibroblastoma [NCIt concept]
gene_mapped_to_disease
- Dedifferentiated Dermatofibrosarcoma Protuberans [NCIt concept]
- Dermatofibrosarcoma Protuberans [NCIt concept]
- Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like Differentiation [NCIt concept]
- Dermatofibrosarcoma Protuberans with Myoid Differentiation [NCIt concept]
- Fibrosarcomatous Dermatofibrosarcoma Protuberans [NCIt concept]
- Giant Cell Fibroblastoma [NCIt concept]
- Myxoid Dermatofibrosarcoma Protuberans [NCIt concept]
- Pigmented Dermatofibrosarcoma Protuberans [NCIt concept]
- Plaque-Like Dermatofibrosarcoma Protuberans [NCIt concept]
related_to_genetic_biomarker
- COL1A1 Gene [NCIt concept]
- PDGFB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients