Hs03967003_cn

• Gene Symbol: EPN2
• Assay Reference Genome Location: Chr.17:19274013 on build GRCh38
• Cytoband: 17p11.2

Target Gene Details

• Entrez Gene ID: 22905
• Gene Name: epsin 2
• Gene Aliases: EHB21
• Location: Chr.17:19237377-19336715 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPN2	NM_001102664.1			NP_001096134.1
	NM_014964.4			NP_055779.2
	NM_148921.3			NP_683723.2
	AB028988.1
	AK024115.1			BAB14831.1
	AK092366.1
	AK295652.1
	AK298006.1
	AK307455.1
	BC070036.1			AAH70036.1
	DA220261.1
	DC316524.1

Target Gene Details

• Entrez Gene ID: 100874309
• Gene Name: EPN2 intronic transcript 1
• Gene Aliases: -
• Location: Chr.17:19271393-19274388 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPN2-IT1	NR_046824.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	SNORD3A GRAPL SNORD3C LOC388436 SNORD3B-2 SNORD3D PRPSAP2 LOC102724624 GRAP SNORD3B-1 EPN2 EPN2-IT1 LOC79999 FAM83G SLC5A10
esv33572	Chr.17:18919047 - 19291177 on Build GRCh38	Gain	SNORD3A GRAPL SNORD3C LOC388436 SNORD3B-2 SNORD3D PRPSAP2 LOC102724624 GRAP SNORD3B-1 EPN2 EPN2-IT1 LOC79999 FAM83G SLC5A10
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	SNORD3A GRAPL SNORD3C LOC388436 SNORD3B-2 SNORD3D PRPSAP2 LOC102724624 GRAP SNORD3B-1 EPN2 EPN2-IT1 LOC79999 FAM83G SLC5A10
nsv833393	Chr.17:19146950 - 19361795 on Build GRCh38	Gain+Loss	MIR1180 SNORD3A B9D1 GRAPL SNORD3C EPN2 LOC388436 EPN2-IT1 EPN2-AS1 LOC79999
esv3582561	Chr.17:19240831 - 19585268 on Build GRCh38	Loss	MIR1180 SNORA59B RPS2P46 B9D1 SLC47A1 MAPK7 RNF112 EPN2 EPN2-IT1 EPN2-AS1 MFAP4
nsv1061317	Chr.17:19047542 - 20322438 on Build GRCh38	Gain	ULK2 GRAPL SNORD3C LOC388436 SNORD3B-2 SNORD3D ALDH3A1 SNORA59B LOC100131943 CCDC144CP SNORD3B-1 EPN2 EPN2-IT1 LOC79999 AKAP10 SNORD3A SPECC1 RNF112 EPN2-AS1 MIR1180 RPS2P46 B9D1 LOC102724624 SLC47A1 MAPK7 SLC47A2 GRAP MFAP4 ALDH3A2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

endocytosis
regulation of endocytosis
cell-cell adhesion

Function(s)

protein binding
lipid binding
cadherin binding involved in cell-cell adhesion