Hs05966646_cn

• Gene Symbol: WHSC1
• Assay Reference Genome Location: Chr.4:1880442 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 7468
• Gene Name: Wolf-Hirschhorn syndrome candidate 1
• Gene Aliases: MMSET, NSD2, REIIBP, TRX5, WHS
• Location: Chr.4:1871357-1982207 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WHSC1	NM_001042424.2			NP_001035889.1
	XM_005248002.2			XP_005248059.1
	XM_005248005.2			XP_005248062.1
	AK289697.1
	BC020545.1
	BC052254.1			AAH52254.1
	CX866583.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv593346	Chr.4:1870601 - 1891901 on Build GRCh38	Loss	WHSC1
nsv829836	Chr.4:1775678 - 1901525 on Build GRCh38	Loss	WHSC1 FGFR3 LETM1

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
membranous septum morphogenesis
atrial septum primum morphogenesis
atrial septum secundum morphogenesis
double-strand break repair via nonhomologous end joining
transcription, DNA-templated
anatomical structure morphogenesis
histone H3-K36 methylation
chromatin modification
histone H4-K20 methylation
positive regulation of isotype switching to IgA isotypes
bone development
regulation of establishment of protein localization
regulation of double-strand break repair via nonhomologous end joining

Function(s)

chromatin binding
protein binding
zinc ion binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H4-K20 specific)
sequence-specific DNA binding