PRSS55

protein-coding

serine protease 55, the group of Serine proteases

Gene summary

This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]

MANE transcript

NM_198464.4

Inheritance

—

ClinVar variants

U:77B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.35

Max pathogenic AF

—

Genomic locus

chr8:10,525,532-10,554,166

External References & Databases

Ensembl (ENSG00000184647)

Transcript & Mutation Effects

hg38 • Region Span ~28.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PRSS55 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 88

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198464.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			77 clinvar	10 clinvar		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	77	11	1	89

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198464.4	RefSeq	NP_940866.2	5	MANE Select
ENST00000328655.8	Ensembl	ENSP00000333003.3	5	MANE Select
NM_001197020.2	RefSeq	NP_001183949.1	5	Standard
ENST00000518641.1	Ensembl	ENSP00000429376.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

serine-type endopeptidase activity

Cellular Component

cytosol
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328655
Coding exons: 5
Length: 28621
Individuals with no LoFs: 125670
Homozygous LoFs: 0
Heterozygous LoFs: 77
Defined: 125747
p: 0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-3.40	338	202	1.67	0.0000110	2274
Missense (PolyPhen)		106	62.735	1.6897		760
Synonymous	-3.30	126	86.9	1.45	0.00000560	706
Loss of Function	-1.04	14	10.4	1.35	4.43e-7	125

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00068	0.00068	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00060	0.00060	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00029	0.00029	rare
South Asian	0.00039	0.00039	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable serine protease. {ECO:0000250}.;

Intolerance Scores

RVIS EVS: 0.98
RVIS percentile EVS: 90.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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