PRSS54

serine protease 54, the group of Serine proteases

Basic information

Region (hg38): 16:58279997-58295047

Links

ENSG00000103023 ∙ NCBI:221191 ∙ ∙ HGNC:26336 ∙ Uniprot:Q6PEW0 ∙ 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 PRSS54 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS54 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			22	2	1	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	2	1

Variants in PRSS54

This is a list of pathogenic ClinVar variants found in the PRSS54 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-58280263-C-A		not specified	Uncertain significance (Apr 22, 2024)
16-58280282-T-A		not specified	Uncertain significance (Mar 02, 2023)
16-58280334-C-T		not specified	Uncertain significance (Oct 12, 2021)
16-58280345-T-C		not specified	Uncertain significance (Nov 26, 2024)
16-58280361-C-T		not specified	Likely benign (Mar 29, 2023)
16-58280366-G-A		not specified	Likely benign (Jul 06, 2022)
16-58280450-G-A		not specified	Uncertain significance (Aug 09, 2021)
16-58280459-C-G		not specified	Uncertain significance (Dec 03, 2021)
16-58280504-T-C		not specified	Uncertain significance (May 25, 2022)
16-58280591-G-C		not specified	Uncertain significance (Dec 13, 2023)
16-58280598-C-G		not specified	Uncertain significance (Apr 17, 2024)
16-58280616-A-G		not specified	Uncertain significance (Oct 12, 2024)
16-58280633-T-A		not specified	Uncertain significance (Mar 26, 2024)
16-58280670-A-C		not specified	Uncertain significance (Dec 22, 2023)
16-58280715-C-T		not specified	Likely benign (Nov 08, 2024)
16-58280751-G-C		not specified	Uncertain significance (Nov 07, 2022)
16-58284600-G-A		not specified	Uncertain significance (Sep 27, 2021)
16-58284658-G-C			Benign (Aug 30, 2018)
16-58284705-G-A		not specified	Uncertain significance (Jul 20, 2021)
16-58285975-G-T		not specified	Uncertain significance (Nov 21, 2024)
16-58285997-C-A		not specified	Uncertain significance (Apr 23, 2024)
16-58286112-A-G		not specified	Uncertain significance (Dec 06, 2021)
16-58286118-G-A		not specified	Uncertain significance (Oct 14, 2023)
16-58286182-C-T		not specified	Uncertain significance (Jul 15, 2021)
16-58290964-C-G		not specified	Uncertain significance (Aug 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS54	protein_coding	protein_coding	ENST00000219301	5	15051

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.101	0.869	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.488	209	230	0.909	0.0000125	2599
Missense in Polyphen		61	75.056	0.81273		879
Synonymous	0.342	94	98.3	0.956	0.00000653	769
Loss of Function	1.86	3	9.01	0.333	4.66e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000611	0.0000611
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000527	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.63

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.153

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: Prss54

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular space
• Molecular function: serine-type endopeptidase activity