PRSS37

serine protease 37, the group of Serine proteases

Basic information

Region (hg38): 7:141836299-141841487

Links

ENSG00000165076 ∙ NCBI:136242 ∙ ∙ HGNC:29211 ∙ Uniprot:A4D1T9 ∙ 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 PRSS37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS37 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in PRSS37

This is a list of pathogenic ClinVar variants found in the PRSS37 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-141836426-G-C		not specified	Uncertain significance (May 07, 2024)
7-141836460-C-T		not specified	Conflicting classifications of pathogenicity (Mar 29, 2022)
7-141836466-C-T		not specified	Uncertain significance (Nov 01, 2022)
7-141837114-C-A		not specified	Uncertain significance (Jun 01, 2023)
7-141837231-G-A		not specified	Uncertain significance (Dec 15, 2023)
7-141837919-T-C		not specified	Uncertain significance (Jan 22, 2024)
7-141837940-G-T		not specified	Uncertain significance (Mar 13, 2023)
7-141838030-C-T		not specified	Uncertain significance (Nov 15, 2021)
7-141838076-C-G		not specified	Uncertain significance (Jun 13, 2024)
7-141839387-C-T		not specified	Uncertain significance (Jan 03, 2024)
7-141839437-G-A		not specified	Uncertain significance (Jan 19, 2024)
7-141839441-C-T		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS37	protein_coding	protein_coding	ENST00000350549	5	5202

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000249	0.515	125556	0	192	125748	0.000764

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.343	124	135	0.917	0.00000740	1545
Missense in Polyphen		36	50.258	0.7163		610
Synonymous	-0.146	52	50.7	1.03	0.00000293	442
Loss of Function	0.752	10	12.9	0.774	8.79e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000991	0.000991
Ashkenazi Jewish	0.0100	0.00987
East Asian	0.00	0.00
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000373	0.000369
Middle Eastern	0.00	0.00
South Asian	0.000361	0.000359
Other	0.000664	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in male fertility (By similarity). May have a role in sperm migration or binding to zona-intact eggs (By similarity). Involved in the activation of the proacrosin/acrosin system (PubMed:27649891). {ECO:0000250|UniProtKB:Q9DAA4, ECO:0000269|PubMed:27649891}.

Intolerance Scores

• loftool: 0.427
• rvis_EVS: 0.68
• rvis_percentile_EVS: 85.04

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.131

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: Prss37
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: proteolysis;binding of sperm to zona pellucida;cell migration;protein maturation;regulation of protein processing;positive regulation of fertilization;positive regulation of acrosome reaction
• Cellular component: acrosomal vesicle;extracellular region;nucleus;secretory granule
• Molecular function: serine-type endopeptidase activity