PRSS23

serine protease 23, the group of Serine proteases

Basic information

Region (hg38): 11:86791058-86952910

Links

ENSG00000150687 ∙ NCBI:11098 ∙ OMIM:618376 ∙ HGNC:14370 ∙ Uniprot:O95084 ∙ 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 PRSS23 gene.

• not provided (237 variants)
• Exudative vitreoretinopathy 1 (120 variants)
• Inborn genetic diseases (26 variants)
• Familial exudative vitreoretinopathy (11 variants)
• not specified (2 variants)
• Exudative retinopathy;Familial exudative vitreoretinopathy (2 variants)
• Retinal dystrophy (2 variants)
• Atrophia bulborum hereditaria (1 variants)
• Retinopathy of prematurity (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS23 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				1		1
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region				1		1
non coding	30	16	190	63	43	342
Total	30	16	210	65	43

Highest pathogenic variant AF is 0.0000460

Variants in PRSS23

This is a list of pathogenic ClinVar variants found in the PRSS23 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-86807661-G-A			Likely benign (Apr 01, 2022)
11-86807666-T-G		not specified	Uncertain significance (Aug 13, 2021)
11-86807686-C-T		not specified	Uncertain significance (Apr 08, 2022)
11-86807695-G-A		not specified	Uncertain significance (Jun 07, 2022)
11-86807711-C-T		not specified	Uncertain significance (Jan 26, 2022)
11-86807749-C-T		not specified	Uncertain significance (Aug 30, 2021)
11-86807771-A-C		not specified	Uncertain significance (Jul 06, 2021)
11-86807772-G-T		not specified	Uncertain significance (Jul 09, 2021)
11-86807809-G-A			Likely benign (Aug 01, 2023)
11-86807821-G-C		not specified	Uncertain significance (Feb 28, 2023)
11-86807909-C-T		not specified	Uncertain significance (Dec 26, 2023)
11-86807921-A-G		not specified	Uncertain significance (Oct 05, 2022)
11-86807959-C-T		not specified	Uncertain significance (Jul 14, 2022)
11-86807995-T-C		not specified	Uncertain significance (Feb 15, 2023)
11-86808017-G-A		not specified	Uncertain significance (Jun 09, 2022)
11-86808028-C-A		not specified	Uncertain significance (Jun 11, 2021)
11-86808116-C-T		not specified	Uncertain significance (Nov 12, 2021)
11-86808166-C-G		not specified	Uncertain significance (May 24, 2023)
11-86808193-G-A		not specified	Uncertain significance (Jan 05, 2022)
11-86808236-A-G		not specified	Uncertain significance (Feb 21, 2024)
11-86808323-C-T		not specified	Uncertain significance (Jan 16, 2024)
11-86808443-C-T		not specified	Uncertain significance (Oct 18, 2021)
11-86808541-G-A		not specified	Uncertain significance (Dec 16, 2022)
11-86808612-G-C		not specified	Uncertain significance (May 27, 2022)
11-86808709-A-G		not specified	Uncertain significance (Mar 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS23	protein_coding	protein_coding	ENST00000280258	1	161852

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000194	0.901	125719	0	25	125744	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.470	200	220	0.911	0.0000121	2486
Missense in Polyphen		88	109.06	0.80693		1182
Synonymous	-0.0386	90	89.5	1.01	0.00000524	768
Loss of Function	1.56	10	16.9	0.591	0.00000118	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000388	0.000388
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.0000879
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.211
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.31

Haploinsufficiency Scores

• pHI: 0.281
• hipred: N
• hipred_score: 0.350
• ghis: 0.545

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.725

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prss23

Zebrafish Information Network

• Gene name: prss23
• Affected structure: atrioventricular canal endocardium
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: proteolysis;post-translational protein modification;cellular protein metabolic process
• Cellular component: nucleus;endoplasmic reticulum lumen;extracellular exosome
• Molecular function: serine-type endopeptidase activity