NUP98/KDM5A Fusion Gene

Preferred Label : NUP98/KDM5A Fusion Gene;

NCIt synonyms : NUP98-KDM5A Fusion Gene; NUP98/RBBP2 Fusion Gene; NUP98-RBBP2 Fusion Gene; NUP98::KDM5A Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;12)(p15;p13) which fuses the first 13 exons of the NUP98 gene with exons 28-31 of the KDM5A gene. This fusion is associated with acute megakaryoblastic leukemia.;

NCIt note : The one patient that has been documented to have the NUP96/KDM5A fusion gene contained a complex translocation t(11;21;12)(p15;p13;p13). (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C105815;

UMLS CUI

C3828744;

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
- NUP98/KDM5A Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- t(11;12)(p15;p13) [NCIt concept]
- t(11;15)(p15;q35) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Childhood Acute Megakaryoblastic Leukemia with NUP98-KDM5A [NCIt concept]
gene_mapped_to_disease
- Childhood Acute Megakaryoblastic Leukemia with NUP98-KDM5A [NCIt concept]
related_to_genetic_biomarker
- KDM5A Gene [NCIt concept]
- NUP98 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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