Hs03956962_cn

• Gene Symbol: EPN2
• Assay Reference Genome Location: Chr.17:19272198 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: Within Intron 1

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

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