PRSS38

serine protease 38, the group of Serine proteases

Basic information

Region (hg38): 1:227815675-227846470

Links

ENSG00000185888 ∙ NCBI:339501 ∙ ∙ HGNC:29625 ∙ Uniprot:A1L453 ∙ 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 PRSS38 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS38 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				2	5	7
missense			26		3	29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	26	2	8

Variants in PRSS38

This is a list of pathogenic ClinVar variants found in the PRSS38 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-227815735-G-A			Benign (Jul 25, 2017)
1-227815798-C-T		not specified	Uncertain significance (Aug 04, 2024)
1-227815810-G-A		not specified	Uncertain significance (Feb 15, 2024)
1-227815853-C-T		not specified	Uncertain significance (Jan 26, 2022)
1-227815858-A-G		not specified	Uncertain significance (Aug 02, 2021)
1-227816092-T-G		not specified	Uncertain significance (Dec 22, 2023)
1-227816093-G-A		not specified	Uncertain significance (Feb 28, 2024)
1-227816098-C-T		not specified	Uncertain significance (Mar 21, 2022)
1-227816106-C-T			Benign (Jul 25, 2017)
1-227816123-T-C		not specified	Uncertain significance (Aug 21, 2024)
1-227816126-G-A		not specified	Uncertain significance (Apr 29, 2024)
1-227816128-G-A		not specified	Uncertain significance (Jul 20, 2021)
1-227816131-G-A		not specified	Uncertain significance (Dec 27, 2023)
1-227816139-G-A			Benign (Jul 25, 2017)
1-227816142-C-T			Benign (Oct 19, 2017)
1-227816170-G-A			Benign (May 18, 2018)
1-227816174-A-G		not specified	Uncertain significance (May 31, 2023)
1-227816176-T-A		not specified	Uncertain significance (Dec 10, 2024)
1-227816178-C-T			Benign (Oct 19, 2017)
1-227816197-G-A		not specified	Uncertain significance (Apr 13, 2022)
1-227816200-G-A		not specified	Uncertain significance (Mar 17, 2023)
1-227816237-C-T		not specified	Uncertain significance (Oct 03, 2022)
1-227816258-C-T			Benign (May 18, 2018)
1-227817240-G-A		not specified	Uncertain significance (Oct 25, 2023)
1-227817266-C-T			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS38	protein_coding	protein_coding	ENST00000366757	5	30778

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000627	0.730	125723	0	23	125746	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0795	203	200	1.02	0.0000117	2071
Missense in Polyphen		80	79.537	1.0058		802
Synonymous	-0.225	89	86.3	1.03	0.00000574	686
Loss of Function	1.02	8	11.8	0.678	5.04e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000300	0.000300
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.0000480	0.0000462
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.0000545	0.0000544
South Asian	0.000164	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.215
• rvis_EVS: 1.42
• rvis_percentile_EVS: 94.93

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.173

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: Prss38

Gene ontology

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