ITIH6

inter-alpha-trypsin inhibitor heavy chain family member 6, the group of Inter-alpha-trypsin inhibitor heavy chains

Basic information

Region (hg38): X:54748918-54798255

Previous symbols: [ "ITIH5L" ]

Links

ENSG00000102313 ∙ NCBI:347365 ∙ ∙ HGNC:28907 ∙ Uniprot:Q6UXX5 ∙ 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 ITIH6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITIH6 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				2		2
missense			124	4		128
nonsense			1	1		2
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	126	7	1

Variants in ITIH6

This is a list of pathogenic ClinVar variants found in the ITIH6 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-54749895-T-A		ITIH6-related disorder	Likely benign (Jul 14, 2022)
X-54749903-C-T		not specified	Uncertain significance (Feb 06, 2023)
X-54749918-G-T		not specified	Uncertain significance (Nov 12, 2021)
X-54749947-C-T		not specified	Uncertain significance (Apr 19, 2023)
X-54749974-C-T		not specified	Uncertain significance (Apr 29, 2024)
X-54749995-T-C		not specified	Uncertain significance (Jan 26, 2022)
X-54750019-A-G		not specified	Uncertain significance (Jul 13, 2021)
X-54750046-C-T		ITIH6-related disorder	Benign (Sep 30, 2019)
X-54750093-G-A			Likely benign (Jan 01, 2023)
X-54750095-G-T		not specified	Uncertain significance (Jun 07, 2024)
X-54750101-A-G		not specified	Uncertain significance (Jul 25, 2023)
X-54751011-C-T		not specified	Uncertain significance (Feb 28, 2023)
X-54751014-C-T		not specified	Uncertain significance (Jun 17, 2022)
X-54751027-T-C		not specified	Uncertain significance (Mar 29, 2022)
X-54751030-G-A		not specified	Uncertain significance (Feb 23, 2023)
X-54751039-C-T		not specified	Uncertain significance (Apr 27, 2023)
X-54751090-T-C		not specified	Uncertain significance (Dec 02, 2022)
X-54751095-C-T		not specified	Uncertain significance (Jan 17, 2024)
X-54751117-C-A			Likely benign (Feb 01, 2023)
X-54751120-G-A		not specified	Uncertain significance (Dec 09, 2023)
X-54751146-C-T		not specified	Uncertain significance (Sep 25, 2024)
X-54751183-T-C		not specified	Uncertain significance (Oct 29, 2021)
X-54751215-C-T		not specified	Uncertain significance (Feb 22, 2023)
X-54751216-G-A		not specified	Uncertain significance (Feb 28, 2024)
X-54751273-C-T		not specified	Uncertain significance (Jan 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITIH6	protein_coding	protein_coding	ENST00000218436	13	49342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.51e-24	0.0000870	125643	35	69	125747	0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.30	648	503	1.29	0.0000387	8398
Missense in Polyphen		100	93.942	1.0645		1886
Synonymous	-1.71	238	207	1.15	0.0000156	2898
Loss of Function	-0.711	34	29.8	1.14	0.00000232	513

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00487	0.00392
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000163
Finnish	0.000131	0.0000924
European (Non-Finnish)	0.000358	0.000255
Middle Eastern	0.000217	0.000163
South Asian	0.000219	0.000131
Other	0.000451	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.57
• rvis_percentile_EVS: 98.74

Haploinsufficiency Scores

• pHI: 0.0779
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Itih5l-ps

Gene ontology

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