Hs04384024_cn

• Gene Symbol: ITIH5
• Assay Reference Genome Location: Chr.10:7574337 on build GRCh38
• Cytoband: 10p14

Target Gene Details

• Entrez Gene ID: 80760
• Gene Name: inter-alpha-trypsin inhibitor heavy chain family member 5
• Gene Aliases: ITI-HC5, PP14776
• Location: Chr.10:7559270-7666998 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITIH5	NM_001001851.2			NP_001001851.1
	NM_030569.6			NP_085046.5
	NM_032817.5			NP_116206.4
	XM_011519713.2			XP_011518015.1
	XM_011519714.2			XP_011518016.1
	AB075833.1			BAB85539.1
	AF318347.1			AAL55854.1
	AK027375.1			BAB55070.1
	AK027831.1			BAB55397.1
	AK027849.1			BAB55409.1
	AK075381.1
	AL833203.1
	AY238437.1			AAO49812.1
	AY358426.1			AAQ88792.1
	CR627109.1			CAH10363.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1038398	Chr.10:7501987 - 7614812 on Build GRCh38	Gain	ITIH5
nsv1038131	Chr.10:7416409 - 7706490 on Build GRCh38	Gain	ITIH5 ITIH2
esv2759732	Chr.10:7381534 - 7695776 on Build GRCh38	Loss	ITIH5 SFMBT2

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity
hyaluronan metabolic process

Function(s)

serine-type endopeptidase inhibitor activity