Preferred Label : PAX/FOXO1 Fusion Gene;
NCIt synonyms : PAX Family/FOXO1 Fusion Gene; PAX Family/Forkhead Box O1 Gene Fusion; PAX-FOXO1 Fusion Gene; PAX/Forkhead Box O1 Gene Fusion; PAX/FKHR Fusion Gene; PAX::FOXO1 Fusion Gene;
NCIt definition : A fusion gene resulting from a chromosomal translocation that fuses a PAX family gene
(usually PAX3 or PAX7, on chromosome 2 or 1, respectively) with the FOXO1 gene on
chromosome 13. These rearrangements result in expression of fusion proteins consisting
of the intact PAX family N-terminal DNA binding domain fused in-framed to the intact
FOXO1 C-terminal transcriptional activation domain and are associated with alveolar
rhabdomyosarcoma.;
NCI Metathesaurus CUI : CL1642765;
Origin ID : C176966;
UMLS CUI : C5447523;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
