Hs06190031_cn

• Gene Symbol: EPPK1
• Assay Reference Genome Location: Chr.8:143878810 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: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPPK1	XM_017013890.1			XP_016869379.1

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	MIR6847 MAF1 SHARPIN MIR6846 PARP10 GRINA SPATC1 GPAA1 EPPK1 MIR661 CYC1 PLEC HGH1 EXOSC4 WDR97 MROH1 SMPD5 OPLAH
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR6847 MAF1 SHARPIN MIR6846 PARP10 GRINA SPATC1 GPAA1 EPPK1 MIR661 CYC1 PLEC EXOSC4 WDR97 SMPD5 OPLAH
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR6847 MIR6845 MIR6846 LOC642574 PARP10 GRINA MIR937 SPATC1 PUF60 EPPK1 MIR661 PLEC EXOSC4 NRBP2 SMPD5 OPLAH SCRIB
nsv466009	Chr.8:143812326 - 143900795 on Build GRCh38	Loss	MIR6845 MIR937 NRBP2 PUF60 EPPK1 SCRIB

More Information

• Set Membership: Intragenic, 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