ITIH1

inter-alpha-trypsin inhibitor heavy chain 1, the group of Inter-alpha-trypsin inhibitor heavy chains

Basic information

Region (hg38): 3:52777595-52792068

Links

ENSG00000055957 ∙ NCBI:3697 ∙ OMIM:147270 ∙ HGNC:6166 ∙ Uniprot:P19827 ∙ 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 ITIH1 gene.

• not_specified (145 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITIH1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002215.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			136	8	1	145
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	136	10	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITIH1	protein_coding	protein_coding	ENST00000273283	22	14476

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.08e-31	0.0000764	125108	5	635	125748	0.00255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.285	531	550	0.966	0.0000332	5980
Missense in Polyphen		195	192.11	1.015		2241
Synonymous	0.591	214	225	0.950	0.0000146	1771
Loss of Function	0.216	48	49.6	0.967	0.00000271	513

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00368	0.00364
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00190	0.00190
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00107	0.000994
Middle Eastern	0.00190	0.00190
South Asian	0.0124	0.0123
Other	0.00235	0.00228

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.

Recessive Scores

• pRec: 0.156

Intolerance Scores

• loftool: 0.385
• rvis_EVS: -0.83
• rvis_percentile_EVS: 11.53

Haploinsufficiency Scores

• pHI: 0.416
• hipred: N
• hipred_score: 0.170
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.152

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Itih1

Gene ontology

• Biological process: negative regulation of endopeptidase activity;hyaluronan metabolic process
• Cellular component: extracellular region;collagen-containing extracellular matrix;extracellular exosome;blood microparticle
• Molecular function: serine-type endopeptidase inhibitor activity;calcium ion binding