Hs00588865_cn

• Gene Symbol: CST8
• Assay Reference Genome Location: Chr.20:23493006 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 10047
• Gene Name: cystatin 8
• Gene Aliases: CRES, CTES5
• Location: Chr.20:23491077-23507124 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CST8	NM_001281730.1			NP_001268659.1
	NM_005492.3			NP_005483.1
	AF059244.1			AAC14707.1
	AW665128.1
	BC069496.1			AAH69496.1
	BC105113.1			AAI05114.1
	BC105119.1			AAI05120.1
	BX096109.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv585723	Chr.20:23446011 - 23588763 on Build GRCh38	Gain	CST9L CST13P CST11 CST8
esv3645525	Chr.20:23425607 - 23597079 on Build GRCh38	Gain	CST9L CSTL1 CST13P CST11 CST8
nsv1065390	Chr.20:23432253 - 23588601 on Build GRCh38	Loss	CST9L CSTL1 CST13P CST11 CST8
nsv470544	Chr.20:23444001 - 23588763 on Build GRCh38	Gain	CST9L CSTL1 CST13P CST11 CST8
nsv1063655	Chr.20:23416012 - 23509093 on Build GRCh38	Gain	CSTL1 NAPB CST11 CST8

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity

Function(s)

cysteine-type endopeptidase inhibitor activity