About: NSD1 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • NSD1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 606681
GenBank_Accession_Number
  • AK026066
Semantic_Type
  • Gene or Genome
Preferred_Name
  • NSD1 wt Allele
UMLS_CUI
  • C2698423
EntrezGene_ID
  • 64324
Legacy_Concept_Name
  • NSD1_wt_Allele
HGNC_ID
  • HGNC:14234
FULL_SYN
  • DKFZp666C163SYNCI
  • NSD1 wt AllelePTNCI
  • Nuclear Receptor Binding SET Domain Protein 1 wt AlleleSYNCI
  • STOSYNCI
  • KMT3BSYNCI
  • SOTOSSYNCI
  • ARA267SYNCI
  • FLJ22263SYNCI
  • FLJ10684SYNCI
  • FLJ44628SYNCI
DEFINITION
  • Human NSD1 wild-type allele is located within 5q35.2-q35.3 and is approximately 162 kb in length. This allele, which encodes histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific protein, plays a role in the modulation of histone methylation. Mutations and translocations of the gene are involved in several diseases.NCI
DesignNote
  • Mutations in the NSD1 gene are associated with both Weaver syndrome and Beckwith-Wiedemann syndrome. Point mutations, microdeletions and a translocation t(5;8)(q35;q24.1) involving the gene are associated with Sotos syndrome. A translocation t(5;11)(q35;p15.5) involving both the NSD1 gene and the NUP98 gene results in the production of a fusion protein and is associated with childhood acute myeloid leukemia. (OMIM)
code
  • C75877
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