PRSS33

serine protease 33, the group of Serine proteases

Basic information

Region (hg38): 16:2783952-2787948

Links

ENSG00000103355 ∙ NCBI:260429 ∙ OMIM:613797 ∙ HGNC:30405 ∙ Uniprot:Q8NF86 ∙ 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 PRSS33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS33 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			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in PRSS33

This is a list of pathogenic ClinVar variants found in the PRSS33 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2784651-C-G		not specified	Uncertain significance (Mar 15, 2024)
16-2784657-C-T		not specified	Likely benign (Nov 01, 2022)
16-2784745-C-T		not specified	Uncertain significance (Nov 21, 2023)
16-2784769-A-G		not specified	Uncertain significance (Nov 03, 2023)
16-2784793-C-A		not specified	Uncertain significance (May 14, 2024)
16-2784799-C-T		not specified	Uncertain significance (Mar 15, 2024)
16-2785088-C-T		not specified	Uncertain significance (May 28, 2024)
16-2785115-G-A		not specified	Uncertain significance (Nov 22, 2021)
16-2785115-G-T		not specified	Uncertain significance (Aug 02, 2021)
16-2785126-A-G		not specified	Uncertain significance (Feb 28, 2023)
16-2785141-C-T		not specified	Uncertain significance (Jan 10, 2023)
16-2785155-C-T			not provided (-)
16-2785378-C-T		not specified	Uncertain significance (Apr 19, 2024)
16-2785398-C-A		not specified	Uncertain significance (Apr 25, 2023)
16-2785405-C-G		not specified	Uncertain significance (Sep 26, 2022)
16-2785420-C-G		not specified	Uncertain significance (Jun 29, 2023)
16-2785518-C-T		not specified	Uncertain significance (Jan 08, 2024)
16-2785525-C-A		not specified	Uncertain significance (May 17, 2023)
16-2785599-A-C		not specified	Uncertain significance (May 26, 2024)
16-2785630-C-T		not specified	Uncertain significance (Jun 27, 2022)
16-2785836-G-A		not specified	Uncertain significance (Nov 17, 2023)
16-2785845-G-C		not specified	Uncertain significance (Jul 19, 2023)
16-2785892-C-A		not specified	Uncertain significance (Oct 27, 2021)
16-2785910-C-T		not specified	Likely benign (Jan 26, 2022)
16-2785956-C-T		not specified	Uncertain significance (Dec 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS33	protein_coding	protein_coding	ENST00000293851	6	3996

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.46e-7	0.295	123839	0	36	123875	0.000145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.785	139	168	0.829	0.0000111	1690
Missense in Polyphen		49	60.182	0.8142		657
Synonymous	1.01	64	75.1	0.852	0.00000516	640
Loss of Function	0.423	11	12.6	0.872	6.16e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000570	0.0000557
Finnish	0.00	0.00
European (Non-Finnish)	0.000156	0.000143
Middle Eastern	0.0000570	0.0000557
South Asian	0.000640	0.000589
Other	0.000176	0.000166

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease that has amidolytic activity, cleaving its substrates before Arg residues. {ECO:0000269|PubMed:12795636}.

Haploinsufficiency Scores

• pHI: 0.0542
• hipred: N
• hipred_score: 0.290
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.109

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss33

Gene ontology

• Biological process: proteolysis;protein kinase C signaling
• Cellular component: extracellular space;cytoplasm
• Molecular function: serine-type endopeptidase activity