Hs03976495_cn

• Gene Symbol: EPN2
• Assay Reference Genome Location: Chr.17:19238370 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 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	GRAPL SNORD3B-2 EPN2-IT1 FAM83G EPN2 SNORD3C SNORD3D GRAP LOC79999 LOC102724624 LOC388436 SNORD3B-1 PRPSAP2 SNORD3A SLC5A10
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	GRAPL SNORD3B-2 EPN2-IT1 FAM83G EPN2 SNORD3C SNORD3D GRAP LOC79999 LOC102724624 LOC388436 SNORD3B-1 PRPSAP2 SNORD3A SLC5A10
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	GRAPL SNORD3B-2 EPN2-IT1 FAM83G EPN2 SNORD3C SNORD3D GRAP LOC79999 LOC102724624 LOC388436 SNORD3B-1 PRPSAP2 SNORD3A SLC5A10
nsv833393	Chr.17:19146950 - 19361795 on Build GRCh38	Gain+Loss	GRAPL EPN2-AS1 EPN2-IT1 LOC388436 EPN2 MIR1180 B9D1 SNORD3C SNORD3A LOC79999
nsv2001	Chr.17:19071255 - 19268498 on Build GRCh38	Deletion	GRAPL LOC388436 EPN2 SNORD3C SNORD3D SNORD3A LOC79999 LOC102724624
nsv9504	Chr.17:18389579 - 19238707 on Build GRCh38	Gain+Loss	SNORD3B-2 KRT17P5 FAM83G EPN2 EVPLL SNORD3D LGALS9C TBC1D28 LOC388436 TVP23B USP32P2 PRPSAP2 LOC101929141 FLJ35934 KRT16P1 GRAPL TRIM16L ZNF286B CCDC144B SNORD3C GRAP FAM106A LOC79999 LOC102724624 FOXO3B FBXW10 SNORD3B-1 SNORD3A SLC5A10 KRT17P2
nsv1061317	Chr.17:19047542 - 20322438 on Build GRCh38	Gain	SNORD3B-2 EPN2-AS1 SNORA59B EPN2 SPECC1 ALDH3A1 MAPK7 SNORD3D CCDC144CP SLC47A2 LOC388436 LOC100131943 RPS2P46 GRAPL EPN2-IT1 AKAP10 MIR1180 B9D1 ULK2 SNORD3C GRAP LOC79999 LOC102724624 MFAP4 SNORD3B-1 SLC47A1 SNORD3A RNF112 ALDH3A2
dgv895e212	Chr.17:19019105 - 19248776 on Build GRCh38	Loss	GRAPL SNORD3B-2 LOC388436 SNORD3B-1 EPN2 SNORD3C SNORD3D SNORD3A GRAP SLC5A10 LOC79999 LOC102724624
nsv833391	Chr.17:18906887 - 19238887 on Build GRCh38	Loss	GRAPL SNORD3B-2 FAM83G EPN2 SNORD3C SNORD3D GRAP LOC79999 LOC102724624 LOC388436 SNORD3B-1 PRPSAP2 SNORD3A SLC5A10

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