About: FUS wt Allele     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
  • FUS wt Allele
rdfs:subClassOf
OMIM_Number
  • 137070
GenBank_Accession_Number
  • AF071213
Semantic_Type
  • Gene or Genome
Preferred_Name
  • FUS wt Allele
UMLS_CUI
  • C2984593
EntrezGene_ID
  • 2521
HGNC_ID
  • HGNC:4010
FULL_SYN
  • FUS wt AllelePTNCI
  • TLSSYNCI
  • Fusion, Derived From t(12;16) Malignant Liposarcoma GeneSYNCI
  • Amyotrophic Lateral Sclerosis 6 GeneSYNCI
  • Fused In Sarcoma wt AlleleSYNCI
  • ALS6SYNCI
  • FUS1SYNCI
  • POMP75SYNCI
  • Fusion (Involved In t(12;16) In Malignant Liposarcoma) GeneSYNCI
  • HNRNPP2SYNCI
DEFINITION
  • NCIHuman FUS wild-type allele is located in the vicinity of 16p11.2 and is approximately 12 kb in length. This allele, which encodes RNA-binding protein FUS, plays a role in the maintenance of genome integrity and the regulation of both RNA processing and gene expression. Mutation of the gene is associated with angiomatoid fibrous histiocytoma and amyotrophic lateral sclerosis. Translocations of the gene are associated with malignant myxoid liposarcoma, acute myeloid leukemia and angiomatoid fibrous histiocytoma.
code
  • C91853
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