PRSS36

serine protease 36, the group of Serine proteases

Basic information

Region (hg38): 16:31138926-31150083

Links

ENSG00000178226 ∙ NCBI:146547 ∙ OMIM:610560 ∙ HGNC:26906 ∙ Uniprot:Q5K4E3 ∙ 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 PRSS36 gene.

• not_specified (123 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS36 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173502.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			118	4	1	123
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	118	7	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS36	protein_coding	protein_coding	ENST00000268281	15	11170

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.51e-19	0.0739	125478	0	270	125748	0.00107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.915	415	471	0.881	0.0000265	5317
Missense in Polyphen		145	160.93	0.90102		1898
Synonymous	1.36	180	205	0.879	0.0000115	1867
Loss of Function	1.17	33	41.1	0.803	0.00000215	422

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00189	0.00189
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.00262	0.00261
Finnish	0.000463	0.000462
European (Non-Finnish)	0.000826	0.000809
Middle Eastern	0.00262	0.00261
South Asian	0.00133	0.00127
Other	0.00180	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease. Hydrolyzes the peptides N-t-Boc-Gln- Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC and, to a lesser extent, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Val-Leu-Lys-AMC. Has a preference for substrates with an Arg instead of a Lys residue in position P1.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.270
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.66

Haploinsufficiency Scores

• pHI: 0.211
• hipred: N
• hipred_score: 0.178
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0345

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss36

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular region;cytoplasm
• Molecular function: serine-type endopeptidase activity