Hs01205742_cn

• Gene Symbol: ITIH4
• Assay Reference Genome Location: Chr.3:52824251 on build GRCh38
• Cytoband: 3p21.1

Target Gene Details

• Entrez Gene ID: 3700
• Gene Name: inter-alpha-trypsin inhibitor heavy chain family member 4
• Gene Aliases: GP120, H4P, IHRP, ITI-HC4, ITIHL1, PK-120, PK120
• Location: Chr.3:52812990-52830701 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITIH4	NM_001166449.1	9	1169	NP_001159921.1
	NM_002218.4	9	1169	NP_002209.2
	AB209388.1	8	2301	BAD92625.1
	AK298407.1	8	1104
	AK298412.1	9	1140
	AK298429.1	9	1140
	AK303769.1	8	995
	BC136392.1	9	1141
	BC136393.1	9	1141
	BX647322.1	6	682
	D38595.1	9	1143	BAA07602.1

Target Gene Details

• Entrez Gene ID: 100873993
• Gene Name: ITIH4 antisense RNA 1
• Gene Aliases: -
• Location: Chr.3:52823935-52825314 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITIH4-AS1	NR_046615.1	2	199
	AI004860.1	2	199

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv590308	Chr.3:52820319 - 52826790 on Build GRCh38	Loss	ITIH4-AS1 ITIH4
nsv508928	Chr.3:52769883 - 52888575 on Build GRCh38	Insertion	TMEM110-MUSTN1 ITIH3 ITIH1 ITIH4-AS1 MIR8064 ITIH4 NEK4 MUSTN1 TMEM110
esv2762328	Chr.3:52740868 - 52968134 on Build GRCh38	Loss	TMEM110-MUSTN1 ITIH3 SFMBT1 ITIH1 ITIH4-AS1 MIR8064 ITIH4 NEK4 MUSTN1 TMEM110
nsv834698	Chr.3:52715967 - 52894203 on Build GRCh38	Gain	TMEM110-MUSTN1 ITIH3 ITIH1 ITIH4-AS1 MIR8064 ITIH4 NEK4 MUSTN1 TMEM110
nsv3822	Chr.3:52799815 - 52832115 on Build GRCh38	Insertion	ITIH3 ITIH4-AS1 ITIH4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

platelet degranulation
acute-phase response
negative regulation of endopeptidase activity
hyaluronan metabolic process
response to cytokine

Function(s)

endopeptidase inhibitor activity
serine-type endopeptidase inhibitor activity
protein binding