Hs03663524_cn

• Gene Symbol: EPPK1
• Assay Reference Genome Location: Chr.8:143867090 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	6236	NP_112598.3
	XM_017013889.1	2	6268	XP_016869378.1
	XM_017013890.1	2	6407	XP_016869379.1
	XM_017013891.1	3	3385	XP_016869380.1
	XM_017013892.1	2	6268	XP_016869381.1
	AB051895.1	1	6177	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	LOC642574 EPPK1 PUF60 SCRIB MIR6845 MIR937 NRBP2
dgv1203n67	Chr.8:143841254 - 143867831 on Build GRCh38	Gain	EPPK1
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MIR6847 CYC1 SPATC1 MROH1 SHARPIN WDR97 HGH1 OPLAH PARP10 MAF1 GPAA1 PLEC EPPK1 GRINA SMPD5 MIR6846 MIR661 EXOSC4
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR6847 CYC1 SPATC1 SHARPIN WDR97 OPLAH PARP10 MAF1 GPAA1 PLEC EPPK1 GRINA SMPD5 MIR6846 MIR661 EXOSC4
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR6847 SPATC1 PUF60 SCRIB OPLAH MIR6845 PARP10 MIR937 LOC642574 PLEC EPPK1 GRINA SMPD5 MIR6846 MIR661 NRBP2 EXOSC4
nsv6444	Chr.8:143846251 - 143875923 on Build GRCh38	Insertion	EPPK1
dgv1204n67	Chr.8:143846185 - 143868084 on Build GRCh38	Gain	EPPK1
nsv466009	Chr.8:143812326 - 143900795 on Build GRCh38	Loss	EPPK1 PUF60 SCRIB MIR6845 MIR937 NRBP2

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