PRSS48

serine protease 48, the group of Serine proteases

Basic information

Region (hg38): 4:151277161-151291862

Links

ENSG00000189099 ∙ NCBI:345062 ∙ ∙ HGNC:24635 ∙ Uniprot:Q7RTY5 ∙ 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 PRSS48 gene.

• not_specified (50 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
• Essential_tremor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS48 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000183375.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			44	6		50
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS48	protein_coding	protein_coding	ENST00000455694	5	14283

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.06e-11	0.0125	57508	15735	51396	124639	0.321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.679	154	180	0.857	0.00000960	2103
Missense in Polyphen		51	58.007	0.8792		746
Synonymous	0.107	67	68.1	0.984	0.00000386	668
Loss of Function	-0.852	15	11.8	1.27	6.04e-7	127

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.328	0.326
Ashkenazi Jewish	0.290	0.291
East Asian	0.203	0.201
Finnish	0.412	0.410
European (Non-Finnish)	0.441	0.438
Middle Eastern	0.203	0.201
South Asian	0.227	0.222
Other	0.358	0.354

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.600
• rvis_EVS: 1.17
• rvis_percentile_EVS: 92.7

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Prss48

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular space
• Molecular function: serine-type endopeptidase activity