MLL/AFF1 Fusion Gene

Preferred Label : MLL/AFF1 Fusion Gene;

NCIt synonyms : MLL-AF4 Fusion Gene; MLL/MLLT2 Fusion Gene; MLL/AF4 Fusion Gene; MLL-AFF1 Fusion Gene; MLL-MLLT2 Fusion Gene; MLL::AFF1 Fusion Gene; KMT2A::AFF1 Fusion Gene; KMT2A/AFF1 Fusion Gene;

NCIt definition : A fusion gene ( 12 kb) that results from a chromosomal translocation t(4;11)(q21;q23) which fuses the 5' half of the MLL gene to the 3' half of the AFF1 gene. This rearrangement is associated with acute lymphocytic leukemia and other leukemia types.;

NCIt note : The presence of this fusion gene is associated with a very poor prognosis.;

Details

Origin ID

C99319;

UMLS CUI

C2674774;

Automatic exact mappings (from CISMeF team)
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
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
- MLL/AFF1 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(4;11)(q21;q23.3) [NCIt concept]
gene_involved_in_molecular_abnormality
- KMT2A-AFF1 Fusion Protein Expression [NCIt concept]
- t(4;11)(q21;q23.3) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with t(4;11)(q21.3;q23.3); AFF1-KMT2A [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(4;11)(q21;23.3); KMT2A-AFF1 [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with t(4;11)(q21.3;q23.3); AFF1-KMT2A [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(4;11)(q21;23.3); KMT2A-AFF1 [NCIt concept]
related_to_genetic_biomarker
- AFF1 Gene [NCIt concept]
- KMT2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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