PRSS21

serine protease 21, the group of Serine proteases

Basic information

Region (hg38): 16:2817180-2826304

Links

ENSG00000007038 ∙ NCBI:10942 ∙ OMIM:608159 ∙ HGNC:9485 ∙ Uniprot:Q9Y6M0 ∙ 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 PRSS21 gene.

• not_specified (51 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS21 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006799.4. 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			46	5		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS21	protein_coding	protein_coding	ENST00000005995	6	9142

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.32e-7	0.376	125711	0	34	125745	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.644	224	198	1.13	0.0000131	2006
Missense in Polyphen		73	73.999	0.9865		784
Synonymous	0.482	78	83.6	0.933	0.00000574	627
Loss of Function	0.660	12	14.7	0.815	9.09e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000395	0.000394
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.000326	0.000326
South Asian	0.000131	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Could regulate proteolytic events associated with testicular germ cell maturation.
• Pathway: miR-targeted genes in leukocytes - TarBase;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins (Consensus)

Recessive Scores

• pRec: 0.0944

Intolerance Scores

• loftool: 0.170
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.27

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.153
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0639

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss21
• Phenotype: reproductive system phenotype; cellular phenotype

Gene ontology

• Biological process: proteolysis;spermatogenesis
• Cellular component: extracellular region;extracellular space;cytoplasm;plasma membrane;membrane;anchored component of membrane
• Molecular function: serine-type endopeptidase activity;protein binding;serine-type peptidase activity