About: TFE3/ASPSCR1 Fusion Gene     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • TFE3/ASPSCR1 Fusion Gene
rdfs:subClassOf
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TFE3/ASPSCR1 Fusion Gene
UMLS_CUI
  • C1853489
FULL_SYN
  • TFE3-ASPSCR1 Fusion GeneSYNCI
  • TFE3/ASPSCR1 Fusion GenePTNCI
DEFINITION
  • A fusion gene that results from chromosomal translocation t(X;17)(p11.2;q25) or der(X)t(X;17)(p11;q25) which fuses exon 2 or 3 of the TFE gene to the 3' half of the ASPSCR1 gene. This fusion is associated with both alveolar soft part sarcoma and primary renal cell carcinoma.NCI
DesignNote
  • The TFE3/ASPSCR1 fusion transcript is found more often in patients with renal cell carcinoma and rarely in patients with alveolar soft part sarcoma.
code
  • C99685
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