CTNNB1/PLAG1 Fusion Gene

Preferred Label : CTNNB1/PLAG1 Fusion Gene;

NCIt synonyms : CTNNB1-PLAG1 Fusion Gene; PLAG1/CTNNB1 Fusion Gene; CTNNB1::PLAG1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(3;8)(p21;q12) which fuses the promoter sequence of the CTNNB1 gene upstream of the entire PLAG1 gene. This rearrangement is associated with both aberrant expression of the zinc finger protein PLAG1 and pleomorphic adenoma of the salivary gland.;

Details

Origin ID

C99866;

UMLS CUI

C3148729;

Automatic exact mappings (from CISMeF team)
- Plag1 zinc finger 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_involved_in_pathogenesis_of_disease
- Salivary Gland Pleomorphic Adenoma [NCIt concept]
gene_mapped_to_disease
- Childhood Salivary Gland Pleomorphic Adenoma [NCIt concept]
- Hard Palate Pleomorphic Adenoma [NCIt concept]
- Laryngeal Pleomorphic Adenoma [NCIt concept]
- Metastasizing Pleomorphic Adenoma of the Salivary Gland [NCIt concept]
- Oral Cavity Pleomorphic Adenoma [NCIt concept]
- Oropharyngeal Pleomorphic Adenoma [NCIt concept]
- Parotid Gland Pleomorphic Adenoma [NCIt concept]
- Salivary Gland Pleomorphic Adenoma [NCIt concept]
- Sinonasal Pleomorphic Adenoma [NCIt concept]
- Soft Palate Pleomorphic Adenoma [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
related_to_genetic_biomarker
- CTNNB1 Gene [NCIt concept]
- PLAG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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