PI15

peptidase inhibitor 15, the group of CAP superfamily

Basic information

Region (hg38): 8:74824534-74855029

Links

ENSG00000137558 ∙ NCBI:51050 ∙ OMIM:607076 ∙ HGNC:8946 ∙ Uniprot:O43692 ∙ 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 PI15 gene.

• not_specified (22 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PI15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015886.5. 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					2	2
missense			21	1		22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	21	1	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PI15	protein_coding	protein_coding	ENST00000260113	5	30493

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0206	0.964	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.00	121	156	0.775	0.00000908	1674
Missense in Polyphen		52	70.852	0.73393		737
Synonymous	-0.160	60	58.4	1.03	0.00000363	499
Loss of Function	2.11	5	13.3	0.376	6.48e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease inhibitor which displays weak inhibitory activity against trypsin (PubMed:8882727). May play a role in facial patterning during embryonic development (By similarity). {ECO:0000250|UniProtKB:Q98ST6, ECO:0000269|PubMed:8882727}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.801
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.21

Haploinsufficiency Scores

• pHI: 0.858
• hipred: N
• hipred_score: 0.408
• ghis: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.173

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pi15

Gene ontology

• Biological process: multicellular organism development;biological_process;negative regulation of peptidase activity
• Cellular component: extracellular space;extracellular exosome
• Molecular function: peptidase inhibitor activity