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
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	GRAPL LOC102724624 SNORD3B-2 GRAP SNORD3B-1 PRPSAP2 SNORD3C EPN2-IT1 SLC5A10 SNORD3A SNORD3D FAM83G LOC79999 EPN2 LOC388436
esv33572	Chr.17:18919047 - 19291177 on Build GRCh38	Gain	GRAPL LOC102724624 SNORD3B-2 GRAP SNORD3B-1 PRPSAP2 SNORD3C EPN2-IT1 SLC5A10 SNORD3A SNORD3D FAM83G LOC79999 EPN2 LOC388436
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	GRAPL LOC102724624 SNORD3B-2 GRAP SNORD3B-1 PRPSAP2 SNORD3C EPN2-IT1 SLC5A10 SNORD3A SNORD3D FAM83G LOC79999 EPN2 LOC388436
nsv833393	Chr.17:19146950 - 19361795 on Build GRCh38	Gain+Loss	EPN2-AS1 MIR1180 GRAPL B9D1 SNORD3C EPN2-IT1 LOC79999 EPN2 SNORD3A LOC388436
nsv2001	Chr.17:19071255 - 19268498 on Build GRCh38	Deletion	SNORD3D GRAPL LOC102724624 SNORD3C LOC79999 EPN2 SNORD3A LOC388436
esv3582561	Chr.17:19240831 - 19585268 on Build GRCh38	Loss	EPN2-AS1 MIR1180 B9D1 RNF112 SNORA59B RPS2P46 MAPK7 SLC47A1 EPN2-IT1 MFAP4 EPN2
nsv1061317	Chr.17:19047542 - 20322438 on Build GRCh38	Gain	GRAPL GRAP SNORD3B-1 SNORA59B RPS2P46 SNORD3C SNORD3A EPN2-AS1 SNORD3D SPECC1 SLC47A1 AKAP10 MFAP4 ALDH3A1 LOC100131943 SLC47A2 LOC102724624 SNORD3B-2 EPN2-IT1 MIR1180 ULK2 B9D1 CCDC144CP RNF112 ALDH3A2 MAPK7 LOC79999 EPN2 LOC388436

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