Hs03977861_cn

• Gene Symbol: EPN2
• Assay Reference Genome Location: Chr.17:19249345 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	LOC79999 EPN2 LOC388436 EPN2-IT1 SLC5A10 GRAPL PRPSAP2 SNORD3B-2 GRAP SNORD3D LOC102724624 SNORD3B-1 FAM83G SNORD3C SNORD3A
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	LOC79999 EPN2 LOC388436 EPN2-IT1 SLC5A10 GRAPL PRPSAP2 SNORD3B-2 GRAP SNORD3D LOC102724624 SNORD3B-1 FAM83G SNORD3C SNORD3A
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	LOC79999 EPN2 LOC388436 EPN2-IT1 SLC5A10 GRAPL PRPSAP2 SNORD3B-2 GRAP SNORD3D LOC102724624 SNORD3B-1 FAM83G SNORD3C SNORD3A
nsv833393	Chr.17:19146950 - 19361795 on Build GRCh38	Gain+Loss	LOC79999 EPN2 MIR1180 LOC388436 SNORD3C EPN2-AS1 EPN2-IT1 SNORD3A GRAPL B9D1
nsv2001	Chr.17:19071255 - 19268498 on Build GRCh38	Deletion	LOC79999 SNORD3D LOC102724624 EPN2 LOC388436 SNORD3C SNORD3A GRAPL
esv3582561	Chr.17:19240831 - 19585268 on Build GRCh38	Loss	RNF112 SLC47A1 EPN2 MIR1180 RPS2P46 MAPK7 EPN2-AS1 EPN2-IT1 SNORA59B MFAP4 B9D1
nsv1061317	Chr.17:19047542 - 20322438 on Build GRCh38	Gain	LOC79999 EPN2 LOC388436 SNORA59B MFAP4 ALDH3A1 B9D1 ALDH3A2 SNORD3B-2 GRAP SNORD3D ULK2 SNORD3B-1 MIR1180 SNORD3C EPN2-AS1 SNORD3A LOC100131943 RNF112 SLC47A1 MAPK7 EPN2-IT1 CCDC144CP GRAPL AKAP10 LOC102724624 RPS2P46 SPECC1 SLC47A2

More Information

Additional Information:

For this assay, SNP(s) [rs78230735] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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