HMGA2/LHFP Fusion Gene

Preferred Label : HMGA2/LHFP Fusion Gene;

NCIt synonyms : LHFP/HMGIC Fusion Gene; HMGIC-LHFP Fusion Gene; HMGA2-LHFP Fusion Gene; HMGIC/LHFP Fusion Gene; HMGA2::LHFP6 Fusion Gene; HMGA2::LHFP Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;13)(q13-15;q12) which fuses exons 1-3 of the HMGA2 gene to the 3' portion of the LHFP gene. This rearrangement is associated with lipoma.;

NCIt note : The protein product of the HMGA2/LHFP fusion gene encodes the three DNA binding domains of the high mobility group protein HMGI-C followed by 69 amino acids encoded by frame-shifted LHFP sequences.;

PubMed : 10329012;

Details

Origin ID

C99423;

UMLS CUI

C1847620;

Automatic exact mappings (from CISMeF team)
- High mobility group at-hook 2 [OMIM gene]
- Lhfpl tetraspan subfamily, member 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]
related_to_genetic_biomarker
- HMGA2 Gene [NCIt concept]
- LHFPL6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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