ACTB/GLI1 Fusion Gene

Preferred Label : ACTB/GLI1 Fusion Gene;

NCIt synonyms : ACTB/GLI Fusion Gene; ACTB-GLI Fusion Gene; ACTB-GLI1 Fusion Gene; ACTB::GLI1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(7;12)(p21-22;q13-15) which fuses exon 1, 2, or 3 of the ACTB gene upstream of exon 6 or 7 of the GLI1 gene. This rearrangement is associated with some pericytomas.;

NCIt note : It is likely that having the ACTB promoter upstream of the GLI1 gene causes overexpression of the fusion gene, which includes the domains in GLI1 that are involved in transcriptional activation.;

NCI Metathesaurus CUI : CL1383063;

Détails

Origin ID

C170920;

UMLS CUI

C5418875;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- ACTB/GLI1 Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- t(7;12)(p21-22;q13-15) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- GLI1-Altered Soft Tissue Tumor [NCIt concept]
- Myopericytoma [NCIt concept]
gene_mapped_to_disease
- GLI1-Altered Soft Tissue Tumor [NCIt concept]
- Head and Neck GLI1-Altered Soft Tissue Tumor [NCIt concept]
- Intravascular Myopericytoma [NCIt concept]
- Myopericytoma [NCIt concept]
- Myopericytomatosis [NCIt concept]
- Tongue GLI1-Altered Soft Tissue Tumor [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
related_to_genetic_biomarker
- ACTB Gene [NCIt concept]
- GLI1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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