PRSS35

protein-coding

serine protease 35, the group of Serine proteases

Gene summary

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C6orf158

MANE transcript

NM_153362.3

Inheritance

—

ClinVar variants

U:48B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.08

Max pathogenic AF

—

Genomic locus

chr6:83,512,534-83,525,704

External References & Databases

Ensembl (ENSG00000146250)

Transcript & Mutation Effects

hg38 • Region Span ~13.2 kb

Loading mutation effect viewer...

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 PRSS35 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153362.3. 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				2 clinvar	3 clinvar	5
missense			48 clinvar	2 clinvar		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	4	3	55

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153362.3	RefSeq	NP_699193.2	1	MANE Select
ENST00000369700.4	Ensembl	ENSP00000358714.3	1	MANE Select
NM_001170423.2	RefSeq	NP_001163894.1	1	Standard
ENST00000867649.1	Ensembl	ENSP00000537708.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000536636
Coding exons: 1
Length: 13230
Individuals with no LoFs: 125659
Homozygous LoFs: 1
Heterozygous LoFs: 88
Defined: 125748
p: 0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.273	253	241	1.05	0.0000140	2722
Missense (PolyPhen)		101	98.205	1.0285		1047
Synonymous	0.422	88	93.2	0.944	0.00000589	800
Loss of Function	-0.259	14	13.0	1.08	8.06e-7	155

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00069	0.00069	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0010	0.00098	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00021	0.00021	rare
South Asian	0.00046	0.00046	rare
Other	0.00098	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.102

Intolerance Scores

LoFtool: 0.670
RVIS EVS: -0.45
RVIS percentile EVS: 24.33

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.231

Gene Damage Prediction

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