Preferred Label : IGH Locus Fusion Gene;
NCIt synonyms : Immunoglobulin Heavy Locus Fusion Gene; Immunoglobulin Heavy Chain Locus Fusion Gene; IGH Fusion Gene;
NCIt definition : A fusion gene that results from a chromosomal rearrangement involving the long arm
of chromosome 14 (specifically 14q32). Most rearrangements involving 14q32 result
in the juxtaposition of a strong transcriptional enhancer from the immunoglobulin
heavy chain (IGH) gene locus with the promoter region for another gene; this promoter
exchange process leads to overexpression or aberrant expression of the protein encoded
by the fusion partner and is associated with various B-cell malignancies.;
NCI Metathesaurus CUI : CL1792919;
Origin ID : C188022;
UMLS CUI : C5707530;
Semantic type(s)
- gene_involved_in_molecular_abnormality
- related_to_genetic_biomarker
