IVL

involucrin, the group of Cornified envelope precursor family

Basic information

Region (hg38): 1:152908546-152911886

Links

ENSG00000163207 ∙ NCBI:3713 ∙ OMIM:147360 ∙ HGNC:6187 ∙ Uniprot:P07476 ∙ 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 IVL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IVL 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				8	4	12
missense			47	5	5	57
nonsense						0
start loss						0
frameshift						0
inframe indel				1	1	2
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	14	10

Variants in IVL

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

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

Position	Type	Phenotype	Significance	ClinVar
1-152909826-C-T		not specified	Uncertain significance (Sep 25, 2024)
1-152909852-C-A		not specified	Uncertain significance (May 14, 2024)
1-152909883-C-G		not specified	Uncertain significance (Sep 20, 2023)
1-152909885-C-A		not specified	Uncertain significance (Oct 02, 2023)
1-152909947-G-C		not specified	Uncertain significance (Aug 12, 2021)
1-152909947-G-T		not specified	Uncertain significance (Oct 20, 2021)
1-152909978-G-A		not specified	Uncertain significance (Dec 08, 2023)
1-152910126-A-T		not specified	Uncertain significance (Sep 03, 2024)
1-152910172-A-G			Likely benign (Sep 01, 2023)
1-152910198-T-A		not specified	Uncertain significance (Dec 07, 2021)
1-152910212-G-A		not specified	Uncertain significance (Oct 26, 2024)
1-152910284-C-G		not specified	Uncertain significance (Dec 05, 2022)
1-152910289-G-A			Benign (Dec 04, 2017)
1-152910291-A-T		not specified	Uncertain significance (Aug 16, 2021)
1-152910295-AGAGCAGCAGGAGGGACAGCTGAAGCACCCG-A			Likely benign (Jul 31, 2018)
1-152910310-A-G			Likely benign (Feb 01, 2024)
1-152910312-A-T		not specified	Uncertain significance (Sep 25, 2024)
1-152910324-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-152910325-G-A			Likely benign (Feb 01, 2024)
1-152910326-G-C		not specified	Uncertain significance (Jan 04, 2024)
1-152910335-G-A			Benign (Jun 13, 2018)
1-152910373-G-T		not specified	Uncertain significance (Dec 07, 2021)
1-152910384-C-T		not specified	Likely benign (Jan 01, 2024)
1-152910399-G-A		not specified	Uncertain significance (Apr 15, 2024)
1-152910421-G-T		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IVL	protein_coding	protein_coding	ENST00000368764	1	3342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.37	355	250	1.42	0.0000109	3772
Missense in Polyphen		50	44.232	1.1304		710
Synonymous	-0.958	127	114	1.11	0.00000524	1028
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.
• Pathway: Corticotropin-releasing hormone signaling pathway;Hair Follicle Development- Induction (Part 1 of 3);Keratinization;Developmental Biology;Formation of the cornified envelope;Validated transcriptional targets of AP1 family members Fra1 and Fra2 (Consensus)

Intolerance Scores

• loftool: 0.945
• rvis_EVS: 0.53
• rvis_percentile_EVS: 81.01

Haploinsufficiency Scores

• pHI: 0.376
• hipred: N
• hipred_score: 0.146
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.211

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ivl
• Phenotype: homeostasis/metabolism phenotype; reproductive system phenotype; normal phenotype

Gene ontology

• Biological process: response to UV-B;peptide cross-linking;isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine;keratinocyte differentiation;cornification
• Cellular component: cornified envelope;cytoplasm;centrosome;cytosol;nuclear body;extracellular exosome
• Molecular function: structural molecule activity;protein binding;protein binding, bridging