Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

NSD1

contributors: mct - updated : 28-06-2018

HGNC name	nuclear receptor binding SET domain protein 1
HGNC id	14234

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

STO , WVSS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with NUP98 in t(5;11)(q35;p15.5) in acute myeloid leukemia constitutional germinal mutation       in Beckwith-Wiedemann syndrome tumoral     --low   by hypermethylation was a common event in neuroblastomas and gliomas (NSD1 hypermethylation was a predictor of poor outcome in high-risk neuroblastoma constitutional     --over   activates NF-kappaB and reverses the inhibitory effect of KDM2A, whereas reduced expression of NSD1 decreases NF-kappaB activation tumoral   amplification     in multiple myeloma, lung cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer brain   therapeutic implications because NSD1 DNA methylation-associated silencing is associated with poor outcome and there are now clinically approved DNA demethylating agents that may be able to restore NSD1 functionality with potential tumor growth inhibitory

ANIMAL & CELL MODELS