About: EWSR1/FLI1 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
  • EWSR1/FLI1 Fusion Gene
rdfs:subClassOf
Semantic_Type
  • Gene or Genome
Preferred_Name
  • EWSR1/FLI1 Fusion Gene
UMLS_CUI
  • C1860425
FULL_SYN
  • FLI1/EWS Fusion GeneSYNCI
  • EWS-FLI1 Fusion GeneSYNCI
  • EWS/FLI1 Fusion GeneSYNCI
  • EWSR1-FLI1 Fusion GeneSYNCI
  • EWSR1/FLI1 Fusion GenePTNCI
DEFINITION
  • A fusion gene that results from a chromosomal translocation t(11;22)(q24;q12) which fuses the first seven or ten exons of the EWSR1 gene with exon 5, 6 or 8 of the FLI1 gene. This rearrangement is associated with Ewing tumor/peripheral primitive neuroectodermal tumor.NCI
DesignNote
  • The EWSR1/FLI1 fusion gene is found in 85% of cases of Ewing tumors. In the most common fusion (type 1), exon 7 of the EWSR1 gene is fused in frame to exon 6 of the FLI1 gene; in type 2, EWSR1 exon 7 is fused in frame to FLI1 exon 5. (Atlas of Genetics and Cytogenetics in Oncology and Haematology)
code
  • C99202
is rdfs:subClassOf of
is someValuesFrom of
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