HAS2/PLAG1 Fusion Gene

Preferred Label : HAS2/PLAG1 Fusion Gene;

NCIt synonyms : HAS2-PLAG1 Fusion Gene; HAS2::PLAG1 Fusion Gene;

NCIt definition : A fusion gene that results from an intrachromosomal rearrangement of the q arm of chromosome 8 which fuses the 5' promoter region of the HAS2 gene upstream of the entire coding region of the PLAG1 gene. This rearrangement is associated with both aberrant expression of the transcription factor zinc finger protein PLAG1 and lipoblastoma.;

Details

Origin ID

C101054;

UMLS CUI

C3639964;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_involved_in_molecular_abnormality
- HAS2-PLAG1 Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lipoblastoma [NCIt concept]
- Lipoblastomatosis [NCIt concept]
gene_mapped_to_disease
- Lipoblastoma [NCIt concept]
- Lipoblastomatosis [NCIt concept]
related_to_genetic_biomarker
- HAS2 Gene [NCIt concept]
- PLAG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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