PRSS57

serine protease 57, the group of Serine proteases|Granule associated serine proteases of immune defence

Basic information

Region (hg38): 19:685546-695498

Previous symbols: [ "PRSSL1" ]

Links

ENSG00000185198NCBI:400668HGNC:31397Uniprot:Q6UWY2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRSS57 gene.

  • not_specified (72 variants)
  • not_provided (1 variants)
  • Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS57 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001308209.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
65
clinvar
8
clinvar
73
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 65 9 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PRSS57protein_codingprotein_codingENST00000329267 59940
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00002830.34212509425641256600.00225
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6071771561.140.00001051734
Missense in Polyphen6956.9491.2116639
Synonymous-1.518871.81.230.00000517626
Loss of Function0.097877.280.9614.71e-779

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002500.00249
Ashkenazi Jewish0.0003980.000397
East Asian0.0002750.000272
Finnish0.0007490.000740
European (Non-Finnish)0.003940.00391
Middle Eastern0.0002750.000272
South Asian0.00006730.0000653
Other0.003630.00359

dbNSFP

Source: dbNSFP

Function
FUNCTION: Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428). {ECO:0000269|PubMed:22474388, ECO:0000269|PubMed:23904161, ECO:0000269|PubMed:25156428}.;

Recessive Scores

pRec
0.120

Intolerance Scores

loftool
rvis_EVS
-0.38
rvis_percentile_EVS
28.11

Haploinsufficiency Scores

pHI
0.134
hipred
N
hipred_score
0.146
ghis
0.420

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Prss57
Phenotype

Gene ontology

Biological process
proteolysis
Cellular component
extracellular space;azurophil granule lumen
Molecular function
serine-type endopeptidase activity;heparin binding;serine-type peptidase activity