PRSS35

serine protease 35, the group of Serine proteases

Basic information

Region (hg38): 6:83512533-83525704

Previous symbols: [ "C6orf158" ]

Links

ENSG00000146250 ∙ NCBI:167681 ∙ ∙ HGNC:21387 ∙ Uniprot:Q8N3Z0 ∙ 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 PRSS35 gene.

• Inborn genetic diseases (10 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS35 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				1	3	4
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	3

Variants in PRSS35

This is a list of pathogenic ClinVar variants found in the PRSS35 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-83523475-A-G		not specified	Uncertain significance (Aug 12, 2021)
6-83523523-A-T		not specified	Uncertain significance (Feb 06, 2023)
6-83523541-G-T		not specified	Uncertain significance (Aug 15, 2023)
6-83523545-C-G		not specified	Uncertain significance (Apr 12, 2022)
6-83523559-G-C		not specified	Uncertain significance (Feb 28, 2024)
6-83523564-G-T		not specified	Uncertain significance (Dec 12, 2023)
6-83523581-G-A		not specified	Uncertain significance (Dec 03, 2021)
6-83523633-C-A			Benign (Feb 19, 2018)
6-83523634-G-A		not specified	Uncertain significance (Dec 12, 2023)
6-83523641-A-G		not specified	Uncertain significance (Apr 12, 2023)
6-83523872-T-A		not specified	Uncertain significance (Apr 13, 2023)
6-83523941-C-T		not specified	Uncertain significance (Dec 21, 2022)
6-83524069-G-A		not specified	Likely benign (Feb 05, 2024)
6-83524194-G-C		not specified	Uncertain significance (Feb 14, 2023)
6-83524199-G-A		not specified	Uncertain significance (Oct 02, 2023)
6-83524266-T-C			Benign (Apr 10, 2018)
6-83524402-G-T		not specified	Uncertain significance (Jan 22, 2024)
6-83524455-C-T			Benign (Jun 04, 2018)
6-83524540-A-G		not specified	Uncertain significance (Feb 28, 2024)
6-83524617-T-C			Likely benign (Jun 18, 2018)
6-83524672-G-T		not specified	Uncertain significance (Jul 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS35	protein_coding	protein_coding	ENST00000536636	1	13230

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.28e-10	0.0483	125659	1	88	125748	0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.273	253	241	1.05	0.0000140	2722
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000817	0.000817
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.00103	0.000979
Finnish	0.00	0.00
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.00103	0.000979
South Asian	0.000457	0.000457
Other	0.000980	0.000978

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.670
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.33

Haploinsufficiency Scores

• pHI: 0.216
• hipred: N
• hipred_score: 0.251
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss35
• Phenotype: normal phenotype

Gene ontology

• Cellular component: extracellular region
• Molecular function: protein binding