PRSS55

serine protease 55, the group of Serine proteases

Basic information

Region (hg38): 8:10525532-10554166

Links

ENSG00000184647 ∙ NCBI:203074 ∙ OMIM:615144 ∙ HGNC:30824 ∙ Uniprot:Q6UWB4 ∙ 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 PRSS55 gene.

• not_specified (85 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS55 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198464.4. 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				1	1	2
missense			75	9		84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	10	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS55	protein_coding	protein_coding	ENST00000328655	5	28621

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.17e-11	0.0124	125670	0	77	125747	0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.40	338	202	1.67	0.0000110	2274
Missense in Polyphen		106	62.735	1.6897		760
Synonymous	-3.30	126	86.9	1.45	0.00000560	706
Loss of Function	-1.04	14	10.4	1.35	4.43e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000822	0.000822
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.000598	0.000598
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000293	0.000290
Middle Eastern	0.000598	0.000598
South Asian	0.000394	0.000392
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable serine protease. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.98
• rvis_percentile_EVS: 90.43

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: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss55

Gene ontology

• Biological process: proteolysis
• Cellular component: cytosol;integral component of membrane
• Molecular function: serine-type endopeptidase activity