Hs05287564_cn

• Gene Symbol: EBPL
• Assay Reference Genome Location: Chr.13:49686256 on build GRCh38
• Cytoband: 13q14.2

Target Gene Details

• Entrez Gene ID: 84650
• Gene Name: emopamil binding protein like
• Gene Aliases: EBRP
• Location: Chr.13:49660676-49691487 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EBPL	NM_001278636.1			NP_001265565.1
	NM_032565.4			NP_115954.1
	NR_103802.1
	NR_103803.1
	AF243433.1			AAK28348.1
	BC018478.1			AAH18478.1
	BC073152.1			AAH73152.1
	BC092471.1			AAH92471.1
	BY799168.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3580633	Chr.13:49683591 - 49701621 on Build GRCh38	Loss	EBPL KPNA3
esv3632050	Chr.13:49539436 - 49701818 on Build GRCh38	Gain	EBPL RCBTB1 ARL11 KPNA3

More Information

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

Panther Classification:

Molecular Function -

isomerase

Gene Ontology Categories:

Process(es)

sterol metabolic process

Function(s)

cholestenol delta-isomerase activity