MLL/SEPT6 Fusion Gene

Preferred Label : MLL/SEPT6 Fusion Gene;

NCIt synonyms : MLL/SEPTIN6 Fusion Gene; SEPT6/MLL Fusion Gene; MLL-SEPT6 Fusion Gene; MLL/SEPT2 Fusion Gene; MLL-SEPTIN6 Fusion Gene; KMT2A::SEPTIN6 Fusion Gene; MLL::SEPT6 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(X;11)(q24;q23) which fuses the 5' half of the MLL gene to exon 1 of the SEPT6 gene. This rearrangement is associated with acute myeloid leukemia.;

NCIt note : Chromosomal rearrangements of 11q23 and Xq24 resulting in MLL-SEPT6 fusions are often complex and sometimes cryptic associated with 11q insertions, including ins(X;11)(q24;q23), ins(X;11)(q22-24;q23) and ins(X;11)(q22;q13q25). (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

GenBank Accession Number : U04946;

Details

Origin ID

C99355;

UMLS CUI

C3888193;

Automatic exact mappings (from CISMeF team)
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
- Septin 6 [OMIM gene]
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/SEPT6 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- KMT2A Gene [NCIt concept]
- SEPTIN6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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