ITIH5

inter-alpha-trypsin inhibitor heavy chain 5, the group of Inter-alpha-trypsin inhibitor heavy chains

Basic information

Region (hg38): 10:7559269-7666998

Links

ENSG00000123243 ∙ NCBI:80760 ∙ OMIM:609783 ∙ HGNC:21449 ∙ Uniprot:Q86UX2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ITIH5 gene.

• Inborn genetic diseases (60 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITIH5 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			53	8		61
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	53	9	2

Variants in ITIH5

This is a list of pathogenic ClinVar variants found in the ITIH5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-7563162-C-G		not specified	Uncertain significance (Feb 28, 2023)
10-7563178-C-T		not specified	Uncertain significance (Jan 22, 2024)
10-7563220-C-G		not specified	Uncertain significance (Mar 22, 2023)
10-7563247-C-G		not specified	Uncertain significance (Mar 13, 2023)
10-7563336-G-C		not specified	Uncertain significance (Jan 26, 2022)
10-7563367-C-A		Malignant tumor of prostate	Uncertain significance (-)
10-7566039-C-T		not specified	Uncertain significance (Sep 01, 2021)
10-7566048-T-C		not specified	Uncertain significance (Sep 12, 2023)
10-7566178-G-T		not specified	Uncertain significance (Jun 03, 2022)
10-7566260-T-A		not specified	Uncertain significance (Aug 10, 2021)
10-7566345-G-A		not specified	Uncertain significance (Dec 19, 2022)
10-7566372-C-T		not specified	Uncertain significance (Sep 23, 2023)
10-7566394-G-C		not specified	Uncertain significance (Sep 16, 2021)
10-7569679-T-C		not specified	Uncertain significance (Aug 17, 2021)
10-7569688-A-C		not specified	Uncertain significance (Jan 23, 2023)
10-7569715-C-G		not specified	Uncertain significance (Aug 17, 2021)
10-7569734-C-T		not specified	Uncertain significance (Mar 13, 2023)
10-7576467-G-C		not specified	Uncertain significance (Mar 05, 2024)
10-7576471-C-T		not specified	Uncertain significance (Nov 07, 2023)
10-7576477-C-G		not specified	Likely benign (Jan 09, 2024)
10-7576522-G-A		not specified	Likely benign (Jul 25, 2023)
10-7576524-G-A		not specified	Uncertain significance (Mar 20, 2023)
10-7576593-C-T			Likely benign (Dec 13, 2017)
10-7576606-C-A		not specified	Uncertain significance (Feb 12, 2024)
10-7576615-G-C		not specified	Uncertain significance (Feb 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITIH5	protein_coding	protein_coding	ENST00000256861	14	107730

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.10e-21	0.00658	125573	0	175	125748	0.000696

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.136	559	568	0.984	0.0000337	6234
Missense in Polyphen		193	197.98	0.97483		2268
Synonymous	-1.99	285	245	1.16	0.0000168	1938
Loss of Function	0.528	33	36.4	0.906	0.00000198	406

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00147	0.00146
Ashkenazi Jewish	0.000203	0.000198
East Asian	0.000600	0.000598
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000949	0.000932
Middle Eastern	0.000600	0.000598
South Asian	0.000695	0.000686
Other	0.000660	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a tumor suppressor.

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.0671
• hipred: N
• hipred_score: 0.251
• ghis: 0.466

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.157

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Itih5

Gene ontology

• Biological process: negative regulation of endopeptidase activity;hyaluronan metabolic process
• Cellular component: collagen-containing extracellular matrix
• Molecular function: serine-type endopeptidase inhibitor activity