RUNX1/ZFPM2 Fusion Gene

Preferred Label : RUNX1/ZFPM2 Fusion Gene;

NCIt synonyms : AML1/FOG2 Fusion Gene; AML1-FOG2 Fusion Gene; RUNX1-ZFPM2 Fusion Gene; RUNX1::ZFPM2 Fusion Gene;

NCIt definition : A fusion gene that results from a cryptic chromosomal rearrangement which fuses the first 6 exons of the RUNX1 gene to exon 6 of the ZFPM2 gene. This rearrangement is associated with one case of refractory anemia with excess blasts.;

NCIt note : Chan et al. (2005) described a t(X;21)(p22.3;q22.1) translocation in a patient with myelodysplasia that fused the RUNX1 gene with the ZFPM2 gene. They anticipated that the partner gene would be located on the X chromosome, but using FISH, they showed that the ZFPM2 gene had been translocated from chromosome 8 to the X chromosome, indicating that a complex chromosomal rearrangement had occurred in this patient.;

PubMed : 15705784;

Details

Origin ID

C99298;

UMLS CUI

C3274667;

Automatic exact mappings (from CISMeF team)
- Runt-related transcription factor 1 [OMIM gene]
- Zinc finger protein, fog family member 2 [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/ZFPM2 Fusion Protein [NCIt concept]
gene_plays_role_in_process
- Transcriptional Repression [NCIt concept]
related_to_genetic_biomarker
- RUNX1 Gene [NCIt concept]
- ZFPM2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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