Hs01591601_cn

• Gene Symbol: EPPIN
• Assay Reference Genome Location: Chr.20:45545696 on build GRCh38
• Cytoband: 20q13.12

Target Gene Details

• Entrez Gene ID: 57119
• Gene Name: epididymal peptidase inhibitor
• Gene Aliases: CT71, CT72, SPINLW1, WAP7, WFDC7, dJ461P17.2
• Location: Chr.20:45540626-45547426 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPPIN	NM_001302861.1	2	235	NP_001289790.1
	NM_020398.3	2	235	NP_065131.1
	AF286368.1	2	187	AAG00546.1
	AF286369.1	1	682	AAG00547.1
	AF286370.2	2	187	AAG00548.1
	AK126022.1	2	166
	AK311906.1	2	234
	AL118493.1	2	189	CAB56343.1
	BC003675.1
	BC044829.1	2	198
	BC053369.1	2	193	AAH53369.1
	BF057305.1	3	550
	DA821702.1	2	210
	DC395362.1	2	236

Target Gene Details

• Entrez Gene ID: 100526773
• Gene Name: EPPIN-WFDC6 readthrough
• Gene Aliases: SPINLW1-WFDC6
• Location: Chr.20:45536280-45547426 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPPIN-WFDC6	NM_001198986.1	2	235	NP_001185915.1
	AK301937.1	2	210

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1056102	Chr.20:44673341 - 45636248 on Build GRCh38	Loss	YWHAB STK4-AS1 SEMG1 KCNS1 TP53TG5 SEMG2 SYS1-DBNDD2 MATN4 WISP2 WFDC2 DBNDD2 KCNK15-AS1 TOMM34 MIR6812 WFDC5 RIMS4 SDC4 STK4 KCNK15 WFDC10A WFDC9 WFDC12 SPINT3 PI3 RBPJL PIGT SYS1 SLPI EPPIN EPPIN-WFDC6 WFDC6 PABPC1L WFDC8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of peptidase activity
negative regulation of endopeptidase activity
defense response to bacterium
protein oligomerization
negative regulation of calcium ion import
negative regulation of sperm motility

Function(s)

serine-type endopeptidase inhibitor activity
protein binding