PAX3/FOXO1 Fusion Gene

Preferred Label : PAX3/FOXO1 Fusion Gene;

NCIt synonyms : PAX3-FOXO1 Fusion Gene; PAX3/FKHR Fusion Gene; PAX3/Forkhead Transcription Factor Gene Fusion; PAX3-FKHR Fusion Gene; PAX3::FOXO1 Fusion Gene;

NCIt related terms : PAX3-FOXO1 fusion;

NCIt definition : A fusion gene ( 3.2 kb) that results from a chromosomal translocation t(2;13)(q35;q14) which fuses intron 7 of the PAX3 gene with intron 1 of the FOXO1 gene. This rearrangement is associated with alveolar rhabdomyosarcoma.;

NCI Metathesaurus CUI : CL433121;

GenBank Accession Number : U02368;

Details

Origin ID

C99712;

UMLS CUI

C1847791;

Automatic exact mappings (from CISMeF team)
- Forkhead box o1a [OMIM gene]
- Paired box gene 3 [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
- PAX3/FOXO1 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(2;13)(q35;q14) [NCIt concept]
gene_involved_in_molecular_abnormality
- PAX3-FOXO1 Fusion Protein Expression [NCIt concept]
- t(2;13)(q35;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]
genetic_biomarker_related_to
- PAX3-FKHR Fusion Protein Measurement [NCIt concept]
related_to_genetic_biomarker
- FOXO1 Gene [NCIt concept]
- PAX3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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