Hs00099819_cn

• Gene Symbol: NSD1
• Assay Reference Genome Location: Chr.5:177135089 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 64324
• Gene Name: nuclear receptor binding SET domain protein 1
• Gene Aliases: ARA267, KMT3B, SOTOS, SOTOS1, STO
• Location: Chr.5:177133079-177300213 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSD1	NM_022455.4			NP_071900.2
	NM_172349.2			NP_758859.1
	AF322907.1			AAK92049.1
	AF380302.1			AAL27991.1
	AF395588.1			AAL40694.1
	AK126591.1
	AY049721.1			AAL06645.1
	BC021961.2			AAH21961.1
	CN333750.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv1011107	Chr.5:177130035 - 177141113 on Build GRCh38	Deletion	NSD1
nsv823351	Chr.5:177079996 - 177144595 on Build GRCh38	Gain	NSD1 ZNF346 FGFR4
nsv521574	Chr.5:177090796 - 177174030 on Build GRCh38	Loss	NSD1 FGFR4
dgv363n21	Chr.5:176931607 - 177242486 on Build GRCh38	Gain	NSD1 ZNF346 FGFR4 UIMC1
nsv509101	Chr.5:177044099 - 177135363 on Build GRCh38	Insertion	NSD1 ZNF346 FGFR4

More Information

Additional Information:

For this assay, SNP(s) [rs199639292] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
regulation of histone H3-K36 methylation
transcription, DNA-templated
histone H3-K36 methylation
histone methylation
regulation of peptidyl-serine phosphorylation
histone H4-K20 methylation
positive regulation of transcription, DNA-templated
regulation of RNA polymerase II regulatory region sequence-specific DNA binding

Function(s)

RNA polymerase II core promoter sequence-specific DNA binding
chromatin binding
transcription cofactor activity
transcription corepressor activity
zinc ion binding
histone-lysine N-methyltransferase activity
estrogen receptor binding
histone methyltransferase activity (H4-K20 specific)
retinoic acid receptor binding
retinoid X receptor binding
thyroid hormone receptor binding
histone methyltransferase activity (H3-K36 specific)
androgen receptor binding