IL1RAPL1/DMD Fusion Gene

Preferred Label : IL1RAPL1/DMD Fusion Gene;

NCIt synonyms : IL1RAPL1-DMD Fusion Gene; IL1RAPL1::DMD Fusion Gene;

NCIt definition : A fusion gene that results from an Xp22.1-Xp21.3 microdeletion which causes a tail-to-tail fusion of the IL1RAPL1 gene and the DMD gene. This rearrangement is associated with Becker muscular dystrophy.;

NCIt note : The 1.8-megabase deletion removes the last exon of the dystrophin gene, the entire GK and NR0B1 genes, and the MAGE-B gene cluster, but also three exons encoding the intracellular signaling domain of interleukin-1 receptor accessory protein-like 1. Therefore, the fusion gene product is a truncated form of the interleukin-1 receptor accessory protein-like 1.;

PubMed : 10757639;

Details

Origin ID

C99388;

UMLS CUI

C1846187;

Automatic exact mappings (from CISMeF team)
- Interleukin 1 receptor accessory protein-like 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_has_abnormality
- Chromosomal Deletion [NCIt concept]
related_to_genetic_biomarker
- DMD Gene [NCIt concept]
- IL1RAPL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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