DNAJB1/PRKACA Fusion Gene

Preferred Label : DNAJB1/PRKACA Fusion Gene;

NCIt synonyms : DNAJB1-PRKACA Fusion Gene; DNAJB1::PRKACA Fusion Gene;

NCIt definition : A fusion gene that results from a heterozygous deletion in chromosome 19 that fuses the first 1 or 2 exons of the DNAJB1 gene in frame with exon 2 of the PRKACA gene. This fusion is associated with fibrolamellar carcinoma.;

PubMed : 24578576;

Details

Origin ID

C122558;

UMLS CUI

C3807366;

Automatic exact mappings (from CISMeF team)
- Dnaj/hsp40 homolog, subfamily b, member 1 [OMIM gene]
- Protein kinase, camp-dependent, catalytic, alpha [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
- DNAJB1/PRKACA Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- DNAJB1-PRKACA Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fibrolamellar Carcinoma [NCIt concept]
gene_mapped_to_disease
- Adult Fibrolamellar Carcinoma [NCIt concept]
- Advanced Fibrolamellar Carcinoma [NCIt concept]
- Childhood Fibrolamellar Carcinoma [NCIt concept]
- Fibrolamellar Carcinoma [NCIt concept]
- Metastatic Fibrolamellar Carcinoma [NCIt concept]
- Recurrent Fibrolamellar Carcinoma [NCIt concept]
- Refractory Fibrolamellar Carcinoma [NCIt concept]
- Unresectable Fibrolamellar Carcinoma [NCIt concept]
gene_plays_role_in_process
- Serine/Threonine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- DNAJB1 Gene [NCIt concept]
- PRKACA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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