PRSS45P

serine protease 45, pseudogene, the group of Serine proteases

Basic information

Region (hg38): 3:46742350-46750891

Previous symbols: [ "PRSS45" ]

Links

ENSG00000188086 ∙ NCBI:377047 ∙ ∙ HGNC:30717 ∙ Uniprot:Q7RTY3 ∙ 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 PRSS45P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS45P 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRSS45P	protein_coding	protein_coding	ENST00000442359	4	70467

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000201	0.503	123185	65	1397	124647	0.00588

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.222	135	128	1.06	0.00000674	1480
Missense in Polyphen		42	36.866	1.1393		467
Synonymous	0.384	43	46.3	0.928	0.00000231	437
Loss of Function	0.379	6	7.09	0.846	3.00e-7	88

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0904	0.0887
Ashkenazi Jewish	0.0000999	0.0000994
East Asian	0.000552	0.000501
Finnish	0.00	0.00
European (Non-Finnish)	0.000360	0.000354
Middle Eastern	0.000552	0.000501
South Asian	0.000789	0.000654
Other	0.00250	0.00248

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.427
• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.7

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: Prss45

Gene ontology

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