GeneBe

SERPINB8

serpin family B member 8, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 18:63970029-64019779

Previous symbols: [ "PI8" ]

Links

ENSG00000166401 ∙ NCBI:5271 ∙ OMIM:601697 ∙ HGNC:8952 ∙ Uniprot:P50452 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • peeling skin syndrome 5 (Strong), mode of inheritance: AR
  • peeling skin syndrome 5 (Moderate), mode of inheritance: AR
  • exfoliative ichthyosis (Supportive), mode of inheritance: AR
  • peeling skin syndrome 5 (Limited), mode of inheritance: AD
  • peeling skin syndrome 5 (Limited), mode of inheritance: Unknown
  • peeling skin syndrome 5 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Peeling skin syndrome 5ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingDermatologic27476651

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINB8 gene.

  • not_specified (49 variants)
  • not_provided (27 variants)
  • SERPINB8-related_disorder (7 variants)
  • Peeling_skin_syndrome_5 (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002640.4. 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.

EffectPLPVUSLBBSum
synonymous
8
clinvar
1
clinvar
 9
missense
49
clinvar
5
clinvar
2
clinvar
 56
nonsense
2
clinvar
 2
start loss
1
 1
frameshift
1
clinvar
1
clinvar
 2
splice donor/acceptor (+/-2bp)
0
Total 1 3 50 13 3

Highest pathogenic variant AF is 0.0004516253

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SERPINB8protein_codingprotein_codingENST00000397985 635120
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.78e-90.16212552102271257480.000903
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.9502402021.190.00001002489
Missense in Polyphen7262.8771.1451837
Synonymous-0.6588678.61.090.00000456675
Loss of Function0.3481415.50.9057.70e-7205

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002440.00245
Ashkenazi Jewish0.01260.0127
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.0002730.000273
Middle Eastern0.0001090.000109
South Asian0.0005610.000555
Other0.0006510.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Has an important role in epithelial desmosome-mediated cell-cell adhesion. {ECO:0000269|PubMed:27476651}.;
Disease
DISEASE: Peeling skin syndrome 5 (PSS5) [MIM:617115]: A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive. {ECO:0000269|PubMed:27476651}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Dissolution of Fibrin Clot;Hemostasis (Consensus)

Recessive Scores

pRec
0.488

Intolerance Scores

loftool
0.0876
rvis_EVS
0.35
rvis_percentile_EVS
74.58

Haploinsufficiency Scores

pHI
0.118
hipred
N
hipred_score
0.208
ghis
0.543

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.822

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Serpinb8
Phenotype

Gene ontology

Biological process
negative regulation of endopeptidase activity;epithelial cell-cell adhesion
Cellular component
extracellular space;cytoplasm;cytosol;collagen-containing extracellular matrix;extracellular exosome
Molecular function
serine-type endopeptidase inhibitor activity;protein binding