PRSS27

serine protease 27, the group of Serine proteases

Basic information

Region (hg38): 16:2712418-2720551

Links

ENSG00000172382 ∙ NCBI:83886 ∙ OMIM:608018 ∙ HGNC:15475 ∙ Uniprot:Q9BQR3 ∙ 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 PRSS27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS27 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	1
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	1

Variants in PRSS27

This is a list of pathogenic ClinVar variants found in the PRSS27 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2712627-T-C		not specified	Uncertain significance (Jun 29, 2023)
16-2712661-T-C		not specified	Likely benign (Apr 25, 2023)
16-2712679-T-C		not specified	Uncertain significance (Jul 09, 2021)
16-2712703-G-A		not specified	Uncertain significance (Jan 30, 2024)
16-2712735-C-T		not specified	Uncertain significance (May 12, 2024)
16-2713555-C-T		not specified	Uncertain significance (Jan 26, 2022)
16-2713576-C-T		not specified	Uncertain significance (May 27, 2022)
16-2713600-A-T		not specified	Uncertain significance (Nov 04, 2022)
16-2713663-C-T		not specified	Uncertain significance (Nov 12, 2021)
16-2713680-C-G		not specified	Uncertain significance (Jul 06, 2022)
16-2714082-C-T		not specified	Uncertain significance (Jun 17, 2024)
16-2714083-C-T		not specified	Uncertain significance (Dec 22, 2023)
16-2714110-C-A		not specified	Uncertain significance (Apr 04, 2023)
16-2714144-C-T			Benign (Nov 09, 2018)
16-2714277-C-G		not specified	Uncertain significance (Oct 27, 2022)
16-2714323-A-G		not specified	Uncertain significance (Jan 06, 2023)
16-2715773-C-A		not specified	Uncertain significance (Jan 22, 2024)
16-2715784-C-T		not specified	Uncertain significance (May 31, 2023)
16-2715849-C-T		not specified	Uncertain significance (Aug 28, 2023)
16-2716524-A-T		not specified	Likely benign (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS27	protein_coding	protein_coding	ENST00000302641	6	8134

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000801	0.778	125730	0	15	125745	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.778	145	174	0.834	0.0000106	1843
Missense in Polyphen		42	58.303	0.72038		654
Synonymous	0.569	75	81.5	0.920	0.00000583	583
Loss of Function	1.13	8	12.3	0.652	5.28e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000211	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000575	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.181

Intolerance Scores

• loftool: 0.297
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.3

Haploinsufficiency Scores

• pHI: 0.144
• hipred: N
• hipred_score: 0.170
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.195

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss27
• Phenotype: normal phenotype

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular region;extrinsic component of plasma membrane;anchored component of plasma membrane
• Molecular function: serine-type endopeptidase activity