About: EWSR1 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
  • EWSR1 wt Allele
equivalentClass
OMIM_Number
  • 133450
Homologous_Gene
  • TET Family
GenBank_Accession_Number
  • X66899
Semantic_Type
  • Gene or Genome
Preferred_Name
  • EWSR1 wt Allele
UMLS_CUI
  • C1704722
GO_Annotation
  • RNA bindingGO:0003723TAS29-SEP-2003CGAP
EntrezGene_ID
  • 2130
Legacy_Concept_Name
  • EWSR1_wt_Allele
HGNC_ID
  • HGNC:3508
FULL_SYN
  • Ewing Sarcoma Breakpoint Region 1 wt AlleleSYNCI
  • Ewing Sarcoma Breakpoint Region 1SYNCI
  • EWSR1 wt AllelePTNCI
  • EWSSYNCI
Gene_Encodes_Product
  • Ewing Sarcoma Breakpoint Region 1 Protein
DEFINITION
  • Human EWSR1 wild-type allele is located in the vicinity of 22q12.2 and is approximately 32 kb in length. This allele, which encodes RNA-binding protein EWS, may play a role in transcriptional repression or post-translational modification. An exact function has not been elucidated; however, mutations of the gene are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. The most common aberration that has been identified is a t(11;22)(q24;q12) translocation.NCI
code
  • C51239
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