PAX3/NCOA1 Fusion Gene

Preferred Label : PAX3/NCOA1 Fusion Gene;

NCIt synonyms : PAX3-NCOA1 Fusion Gene; PAX3::NCOA1 Fusion Gene;

NCIt definition : A fusion gene that results from a rearrangement of chromosome 2 which fuses exon 6 of the PAX3 gene to either exon 12 of the NCOA1 gene. This rearrangement is associated with rare variants of alveolar rhabdomyosarcoma.;

NCIt note : Wachtel, M. et. al. indicate that the PAX3-NCOA1 fusion gene results from a chromosomal translocation t(2;2)(q35;p23). (Cancer Res. 2004; 64:5539-45.);

GenBank Accession Number : AY633656;

PubMed : 15313887;

Details

Origin ID

C101069;

UMLS CUI

C3639977;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- PAX3/NCOA1 Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- PAX3-NCOA1 Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Alveolar Rhabdomyosarcoma [NCIt concept]
related_to_genetic_biomarker
- NCOA1 Gene [NCIt concept]
- PAX3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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