Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Sotos_syndrome
|
| gptkbp:biologicalProcess |
transcription regulation
chromatin binding |
| gptkbp:Entrez_Gene_ID |
64324
ENSG00000165671 |
| gptkbp:expressedIn |
gptkb:nucleus
|
| gptkbp:fullName |
gptkb:Nuclear_receptor-binding_SET_domain-containing_protein_1
|
| gptkbp:function |
histone methyltransferase
|
| https://www.w3.org/2000/01/rdf-schema#label |
Nsd1
|
| gptkbp:locatedOnChromosome |
5q35
|
| gptkbp:mutationAssociatedWith |
developmental delay
overgrowth syndrome |
| gptkbp:OMIM |
606681
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Nsd1
|
| gptkbp:pathway |
epigenetic regulation
|
| gptkbp:product |
gptkb:NSD1_protein
|
| gptkbp:UniProtID |
gptkb:Q96L73
|
| gptkbp:bfsParent |
gptkb:NSD1
|
| gptkbp:bfsLayer |
6
|