PRSS16

serine protease 16, the group of Serine proteases

Basic information

Region (hg38): 6:27247701-27256624

Links

ENSG00000112812 ∙ NCBI:10279 ∙ OMIM:607169 ∙ HGNC:9480 ∙ Uniprot:Q9NQE7 ∙ 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 PRSS16 gene.

• not_specified (63 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS16 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005865.4. 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						0
missense			64			64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS16	protein_coding	protein_coding	ENST00000230582	12	8924

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.06e-7	0.989	125694	0	54	125748	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	232	292	0.794	0.0000152	3219
Missense in Polyphen		58	68.896	0.84185		692
Synonymous	1.84	101	127	0.793	0.00000646	1142
Loss of Function	2.33	15	28.4	0.529	0.00000151	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000582	0.000571
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000136	0.000132
Middle Eastern	0.00	0.00
South Asian	0.000654	0.000653
Other	0.000494	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protease that may play a role in T-cell development.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.833
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.88

Haploinsufficiency Scores

• pHI: 0.298
• hipred: N
• hipred_score: 0.358
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0925

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss16
• Phenotype: normal phenotype; hematopoietic system phenotype; immune system phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: proteolysis;protein catabolic process
• Cellular component: lysosome;endosome
• Molecular function: serine-type peptidase activity;dipeptidyl-peptidase activity