|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:KMT3B
EC 2.1.1.43
|
|
gptkbp:associatedWith
|
gptkb:Sotos_syndrome
gptkb:Weaver_syndrome
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
gptkb:Kurotaki_et_al.
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
gptkb:NSD1_protein
|
|
gptkbp:Entrez_Gene_ID
|
64324
ENSG00000165671
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
Nuclear receptor binding SET domain protein 1
|
|
gptkbp:function
|
histone methyltransferase activity
transcriptional regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:17646
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
23 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:5q35.3
5
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
frameshift
overgrowth syndromes
|
|
gptkbp:mutationFrequencyInSotosSyndrome
|
~80%
|
|
gptkbp:OMIM
|
606681
|
|
gptkbp:orthologInMouse
|
gptkb:Nsd1
|
|
gptkbp:pathway
|
chromatin modification
epigenetic regulation
|
|
gptkbp:proteinFamily
|
AWS domain
PWWP domain
SAC domain
SET domain
PHD finger
|
|
gptkbp:UniProtID
|
gptkb:Q96L73
|
|
gptkbp:bfsParent
|
gptkb:NSD1_protein
gptkb:Sotos_syndrome
gptkb:Sotos_syndrome_1
|
|
gptkbp:bfsLayer
|
7
|
|
http://www.w3.org/2000/01/rdf-schema#label
|
NSD1 gene
|