PAX3/MAML3 Fusion Gene

Preferred Label : PAX3/MAML3 Fusion Gene;

NCIt synonyms : PAX3-MAML3 Fusion Gene; PAX3::MAML3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;4)(q36.1;q31.1) that fuses the first 7 exons of the PAX3 gene upstream of exon 2 of the MAML3 gene. This fusion is associated with biphenotypic sinonasal sarcoma.;

PubMed : 24859338;

Details

Origin ID

C201664;

gene_encodes_gene_product
- PAX3/MAML3 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(2;4)(q36.1;q31.1) [NCIt concept]
gene_involved_in_molecular_abnormality
- t(2;4)(q36.1;q31.1) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Biphenotypic Sinonasal Sarcoma [NCIt concept]
gene_mapped_to_disease
- Biphenotypic Sinonasal Sarcoma [NCIt concept]
related_to_genetic_biomarker
- MAML3 Gene [NCIt concept]
- PAX3 Gene [NCIt concept]

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