PRSS8

serine protease 8, the group of Serine proteases

Basic information

Region (hg38): 16:31131432-31135727

Links

ENSG00000052344 ∙ NCBI:5652 ∙ OMIM:600823 ∙ HGNC:9491 ∙ Uniprot:Q16651 ∙ 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 PRSS8 gene.

• Inborn genetic diseases (6 variants)
• not specified (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS8 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						0
missense			5	1	1	7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	1

Variants in PRSS8

This is a list of pathogenic ClinVar variants found in the PRSS8 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-31132116-G-A		not specified	Uncertain significance (Apr 22, 2022)
16-31132127-A-C		not specified	Uncertain significance (Jan 17, 2024)
16-31132169-C-T		not specified	Likely benign (Dec 15, 2023)
16-31132179-G-A		not specified	Uncertain significance (Nov 14, 2023)
16-31132512-C-T		not specified	Likely benign (Jun 21, 2023)
16-31132694-C-T		not specified	Uncertain significance (Sep 09, 2021)
16-31132742-C-T		not specified	Uncertain significance (Jun 09, 2022)
16-31132853-G-T		not specified	Uncertain significance (Mar 27, 2023)
16-31132936-G-A		not specified	Uncertain significance (Oct 16, 2023)
16-31132953-G-A		not specified	Likely benign (Jan 02, 2024)
16-31133371-G-T		not specified	Uncertain significance (Apr 17, 2023)
16-31133383-A-G		not specified	Uncertain significance (Jan 31, 2024)
16-31135171-C-T		not specified	Uncertain significance (Jan 02, 2024)
16-31135476-C-T		not specified	Benign (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS8	protein_coding	protein_coding	ENST00000317508	6	4328

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.100	0.893	124709	0	11	124720	0.0000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	154	201	0.767	0.0000116	2185
Missense in Polyphen		48	85.685	0.56019		936
Synonymous	0.738	79	87.8	0.900	0.00000566	718
Loss of Function	2.37	4	13.3	0.300	5.75e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000645	0.0000644
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000374	0.0000354
Middle Eastern	0.000111	0.000111
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). {ECO:0000269|PubMed:15246975, ECO:0000269|PubMed:15474520}.
• Pathway: Keratinization;Developmental Biology;Formation of the cornified envelope (Consensus)

Recessive Scores

• pRec: 0.199

Intolerance Scores

• loftool: 0.466
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.246
• hipred: N
• hipred_score: 0.170
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.161

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss8
• Phenotype: immune system phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: proteolysis;positive regulation of sodium ion transport;cornification
• Cellular component: extracellular region;extracellular space;plasma membrane;integral component of membrane;extrinsic component of plasma membrane;anchored component of plasma membrane;extracellular exosome
• Molecular function: endopeptidase activity;serine-type endopeptidase activity;protein binding;serine-type peptidase activity;sodium channel regulator activity