Hs06223963_cn

• Gene Symbol: EPPK1
• Assay Reference Genome Location: Chr.8:143877707 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 83481
• Gene Name: epiplakin 1
• Gene Aliases: EPIPL, EPIPL1
• Location: Chr.8:143857319-143879043 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPPK1	NM_031308.3			NP_112598.3
	XM_017013889.1			XP_016869378.1
	XM_017013890.1			XP_016869379.1
	XM_017013891.1			XP_016869380.1
	XM_017013892.1			XP_016869381.1
	BP313273.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3619119	Chr.8:143874609 - 143883580 on Build GRCh38	Loss	EPPK1
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MIR6846 GPAA1 SPATC1 WDR97 PARP10 SMPD5 EPPK1 MROH1 MAF1 PLEC EXOSC4 SHARPIN HGH1 CYC1 GRINA MIR6847 OPLAH MIR661
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR6846 GPAA1 SPATC1 WDR97 PARP10 SMPD5 EPPK1 MAF1 PLEC EXOSC4 SHARPIN CYC1 GRINA MIR6847 OPLAH MIR661
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR6846 SCRIB PUF60 MIR6845 SPATC1 PARP10 SMPD5 EPPK1 PLEC EXOSC4 GRINA MIR6847 MIR937 LOC642574 NRBP2 OPLAH MIR661
nsv466009	Chr.8:143812326 - 143900795 on Build GRCh38	Loss	SCRIB PUF60 MIR6845 MIR937 NRBP2 EPPK1

More Information

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

Panther Classification:

Molecular Function -

intermediate filament binding protein

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

poly(A) RNA binding