PAX7/FOXO1 Fusion Gene

Preferred Label : PAX7/FOXO1 Fusion Gene;

NCIt synonyms : PAX7/FKHR Fusion Gene; PAX7-FKHR Fusion Gene; PAX7-FOXO1 Fusion Gene; PAX7::FOXO1 Fusion Gene;

NCIt definition : A fusion gene ( 2.5 kb) that results from a chromosomal translocation t(1;13)(p36;q14) which fuses intron 7 of the PAX7 gene with intron 1 of the FOXO1 gene. This rearrangement is associated with alveolar rhabdomyosarcoma and rare cases of embryonal rhabdomyosarcoma.;

Details

Origin ID

C99363;

UMLS CUI

C1850988;

Automatic exact mappings (from CISMeF team)
- Forkhead box o1a [OMIM gene]
- Paired box gene 7 [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
- PAX7/FOXO1 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(1;13)(p36;q14) [NCIt concept]
gene_involved_in_molecular_abnormality
- PAX7-FOXO1 Fusion Protein Expression [NCIt concept]
- t(1;13)(p36;q14) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fusion-Positive Rhabdomyosarcoma [NCIt concept]
gene_mapped_to_disease
- Fusion-Positive Alveolar Rhabdomyosarcoma [NCIt concept]
- Fusion-Positive Rhabdomyosarcoma [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
related_to_genetic_biomarker
- FOXO1 Gene [NCIt concept]
- PAX7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients