Hs03662999_cn

• Gene Symbol: EPPK1
• Assay Reference Genome Location: Chr.8:143872499 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	827	NP_112598.3
	XM_017013889.1	2	859	XP_016869378.1
	XM_017013890.1	2	998	XP_016869379.1
	XM_017013891.1	2	859	XP_016869380.1
	XM_017013892.1	2	859	XP_016869381.1
	AB051895.1	1	768	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	MIR6845 PUF60 MIR937 EPPK1 NRBP2 LOC642574 SCRIB
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	OPLAH HGH1 MIR6847 SHARPIN CYC1 WDR97 MROH1 MIR661 MAF1 SMPD5 EXOSC4 SPATC1 GRINA EPPK1 MIR6846 GPAA1 PARP10 PLEC
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	OPLAH MIR6847 SHARPIN CYC1 WDR97 MIR661 MAF1 SMPD5 EXOSC4 SPATC1 GRINA EPPK1 MIR6846 GPAA1 PARP10 PLEC
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	OPLAH MIR6847 MIR937 NRBP2 MIR661 SMPD5 EXOSC4 SPATC1 MIR6845 PUF60 GRINA EPPK1 MIR6846 PARP10 PLEC LOC642574 SCRIB
nsv6444	Chr.8:143846251 - 143875923 on Build GRCh38	Insertion	EPPK1
nsv466009	Chr.8:143812326 - 143900795 on Build GRCh38	Loss	MIR6845 PUF60 MIR937 EPPK1 NRBP2 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