PI16

peptidase inhibitor 16, the group of CD molecules|CAP superfamily

Basic information

Region (hg38): 6:36948263-36964837

Links

ENSG00000164530 ∙ NCBI:221476 ∙ ∙ HGNC:21245 ∙ Uniprot:Q6UXB8 ∙ 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 PI16 gene.

• not_specified (52 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PI16 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000153370.3. 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			49	3		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PI16	protein_coding	protein_coding	ENST00000373674	6	10405

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.14e-9	0.267	125466	1	281	125748	0.00112

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	227	276	0.822	0.0000166	2928
Missense in Polyphen		64	80.09	0.7991		787
Synonymous	0.622	115	124	0.929	0.00000815	999
Loss of Function	0.604	14	16.7	0.840	8.10e-7	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000465	0.000457
Ashkenazi Jewish	0.000130	0.0000992
East Asian	0.00	0.00
Finnish	0.000248	0.000231
European (Non-Finnish)	0.00168	0.00151
Middle Eastern	0.00	0.00
South Asian	0.00338	0.00291
Other	0.000568	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May inhibit cardiomyocyte growth. {ECO:0000250|UniProtKB:Q9ET66}.

Recessive Scores

• pRec: 0.0976

Intolerance Scores

• loftool: 0.785
• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.16

Haploinsufficiency Scores

• pHI: 0.192
• hipred: N
• hipred_score: 0.180
• ghis: 0.448

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0875

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pi16
• Phenotype: homeostasis/metabolism phenotype; skeleton phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: negative regulation of peptidase activity
• Cellular component: extracellular space
• Molecular function: peptidase inhibitor activity