Hs03682041_cn

• Gene Symbol: EPPK1
• Assay Reference Genome Location: Chr.8:143868382 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPPK1	NM_031308.3	2	4944	NP_112598.3
	XM_017013889.1	2	4976	XP_016869378.1
	XM_017013890.1	2	5115	XP_016869379.1
	XM_017013891.1			XP_016869380.1
	XM_017013892.1	2	4976	XP_016869381.1
	AB051895.1	1	4885	BAB40803.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv612896	Chr.8:143778707 - 143874693 on Build GRCh38	Loss	PUF60 EPPK1 NRBP2 MIR6845 MIR937 LOC642574 SCRIB
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SHARPIN WDR97 MROH1 EPPK1 SMPD5 MAF1 MIR661 PARP10 OPLAH GRINA PLEC SPATC1 GPAA1 CYC1 HGH1 EXOSC4 MIR6846 MIR6847
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SHARPIN WDR97 EPPK1 SMPD5 MAF1 MIR661 PARP10 OPLAH GRINA PLEC SPATC1 GPAA1 CYC1 EXOSC4 MIR6846 MIR6847
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	EPPK1 SMPD5 NRBP2 MIR937 MIR661 LOC642574 PARP10 OPLAH SCRIB GRINA PLEC SPATC1 PUF60 MIR6845 EXOSC4 MIR6846 MIR6847
nsv6444	Chr.8:143846251 - 143875923 on Build GRCh38	Insertion	EPPK1
nsv466009	Chr.8:143812326 - 143900795 on Build GRCh38	Loss	PUF60 EPPK1 NRBP2 MIR6845 MIR937 SCRIB

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

intermediate filament binding protein

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

poly(A) RNA binding