RUNX1/MECOM Fusion Gene

Preferred Label : RUNX1/MECOM Fusion Gene;

NCIt synonyms : AME Fusion Gene; AML/MDS1/EVI1 Fusion Gene; AML1-EVI-1 Fusion Gene; AML1/MDS1 Fusion Gene; AML/EAP Fusion Gene; AML-EAP Fusion Gene; MDS1/AML1 Fusion Gene; RUNX1-MECOM Fusion Gene; AML1-MDS1-EVI1 Fusion Gene; AML1/MDS1/EVI1 Fusion Gene; RUNX1::MECOM Fusion Gene;

NCIt definition : A fusion gene ( 5.9 kb) that results from a chromosomal translocation t(3;21)(q26;q22) which fuses the first 5 exons of the RUNX1 gene to most of the MECOM gene. This rearrangement is associated with acute myelogenous leukemia, chronic myelogenous leukemia and myelodysplasic syndrome.;

GenBank Accession Number : S69002;

Details

Origin ID

C99295;

UMLS CUI

C1838720;

Automatic exact mappings (from CISMeF team)
- Mds1 gene [OMIM gene]
- Runt-related transcription factor 1 [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
- RUNX1/MECOM Fusion Protein [NCIt concept]
gene_has_abnormality
- t(3;21)(q26;q22) [NCIt concept]
gene_involved_in_molecular_abnormality
- MECOM-RUNX1 Fusion Protein Expression [NCIt concept]
- t(3;21)(q26;q22) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with t(3;21)(q26.2;q22.1); MECOM-RUNX1 [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with t(3;21)(q26.2;q22.1); MECOM-RUNX1 [NCIt concept]
related_to_genetic_biomarker
- MECOM Gene [NCIt concept]
- RUNX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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