About: IL1RAPL1/DMD Fusion Gene     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • IL1RAPL1/DMD Fusion Gene
rdfs:subClassOf
Semantic_Type
  • Gene or Genome
Preferred_Name
  • IL1RAPL1/DMD Fusion Gene
PubMedID_Primary_Reference
  • 10757639
UMLS_CUI
  • C1846187
FULL_SYN
  • IL1RAPL1-DMD Fusion GeneSYNCI
  • IL1RAPL1/DMD Fusion GenePTNCI
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.NCI
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.
code
  • C99388
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