SERPINB8
Basic information
Region (hg38): 18:63970029-64019779
Previous symbols: [ "PI8" ]
Links
Phenotypes
GenCC
Source:
- 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:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Peeling skin syndrome 5 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Dermatologic | 27476651 |
ClinVar
This is a list of variants' phenotypes submitted to
- Peeling skin syndrome 5 (1 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.
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 | |||||
missense | 40 | 49 | ||||
nonsense | 1 | |||||
start loss | 1 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | 1 | 3 | ||
non coding | 11 | 13 | ||||
Total | 1 | 1 | 41 | 11 | 19 |
Highest pathogenic variant AF is 0.0000131
Variants in SERPINB8
This is a list of pathogenic ClinVar variants found in the SERPINB8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
18-63978310-T-C | Peeling skin syndrome 5 | Pathogenic (Oct 04, 2024) | ||
18-63978343-C-G | not specified | Uncertain significance (Feb 14, 2023) | ||
18-63978362-A-T | Likely benign (May 12, 2024) | |||
18-63978389-C-T | Benign (Jan 06, 2025) | |||
18-63978394-T-C | Benign (Aug 31, 2023) | |||
18-63978438-A-G | not specified | Uncertain significance (Dec 27, 2023) | ||
18-63978441-G-A | not specified | Uncertain significance (Jul 30, 2024) | ||
18-63979829-T-C | not specified | Uncertain significance (Jun 29, 2022) | ||
18-63979835-G-A | Peeling skin syndrome 5 | Benign (Feb 02, 2025) | ||
18-63979886-T-G | SERPINB8-related disorder | Benign (Dec 26, 2024) | ||
18-63979901-AC-A | Peeling skin syndrome 5 | Likely pathogenic (-) | ||
18-63979906-C-G | not specified | Uncertain significance (Nov 24, 2024) | ||
18-63979920-G-C | not specified | Uncertain significance (Jul 28, 2021) | ||
18-63979936-C-T | SERPINB8-related disorder | Likely benign (Dec 15, 2022) | ||
18-63980032-C-T | Benign (May 14, 2021) | |||
18-63980245-A-T | Benign (Jun 19, 2021) | |||
18-63981491-C-T | Benign (May 22, 2021) | |||
18-63981603-G-A | Benign (May 22, 2021) | |||
18-63981749-A-G | not specified | Uncertain significance (Dec 05, 2024) | ||
18-63981769-T-A | Uncertain significance (Sep 13, 2022) | |||
18-63981776-T-G | not specified | Uncertain significance (May 24, 2023) | ||
18-63981804-G-A | Likely benign (Feb 19, 2024) | |||
18-63981844-A-G | Uncertain significance (May 29, 2022) | |||
18-63981852-A-G | Likely benign (Jun 05, 2024) | |||
18-63981936-A-G | Benign (May 15, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SERPINB8 | protein_coding | protein_coding | ENST00000397985 | 6 | 35120 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.78e-9 | 0.162 | 125521 | 0 | 227 | 125748 | 0.000903 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.950 | 240 | 202 | 1.19 | 0.0000100 | 2489 |
Missense in Polyphen | 72 | 62.877 | 1.1451 | 837 | ||
Synonymous | -0.658 | 86 | 78.6 | 1.09 | 0.00000456 | 675 |
Loss of Function | 0.348 | 14 | 15.5 | 0.905 | 7.70e-7 | 205 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00244 | 0.00245 |
Ashkenazi Jewish | 0.0126 | 0.0127 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000273 | 0.000273 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.000561 | 0.000555 |
Other | 0.000651 | 0.000652 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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