Terminology Service for NFDI4Health
IL1RAPL1/DMD Fusion Gene
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http://purl.obolibrary.org/obo/NCIT_C99388
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. [ ]
Term info
Label
IL1RAPL1/DMD Fusion Gene
Synonyms
- IL1RAPL1-DMD Fusion Gene
- IL1RAPL1/DMD Fusion Gene
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
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.
Display Name
IL1RAPL1/DMD Fusion Gene
Preferred Name
IL1RAPL1/DMD Fusion Gene
PubMedID Primary Reference
10757639
Related To Genetic Biomarker
http://purl.obolibrary.org/obo/NCIT_C75610, http://purl.obolibrary.org/obo/NCIT_C75324
Semantic Type
Gene or Genome
UMLS CUI
C1846187
code
C99388