KLK15

kallikrein related peptidase 15, the group of Kallikreins

Basic information

Region (hg38): 19:50825289-50837213

Links

ENSG00000174562 ∙ NCBI:55554 ∙ OMIM:610601 ∙ HGNC:20453 ∙ Uniprot:Q9H2R5 ∙ 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 KLK15 gene.

• not_specified (34 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017509.4. 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			34	1		35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK15	protein_coding	protein_coding	ENST00000598239	5	11925

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0152	0.887	125688	1	59	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.213	158	166	0.953	0.0000106	1617
Missense in Polyphen		41	56.288	0.72839		633
Synonymous	0.664	64	71.1	0.900	0.00000484	539
Loss of Function	1.39	4	8.31	0.481	3.55e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00137	0.00135
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000169	0.000158
Middle Eastern	0.00	0.00
South Asian	0.000389	0.000359
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protease whose physiological substrate is not yet known.
• Pathway: PPAR Alpha Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

• pRec: 0.460

Intolerance Scores

• loftool: 0.140
• rvis_EVS: 0.88
• rvis_percentile_EVS: 89.07

Haploinsufficiency Scores

• pHI: 0.184
• hipred: N
• hipred_score: 0.162
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.112

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klk15

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular region;secretory granule
• Molecular function: serine-type endopeptidase activity;protein binding;serine-type peptidase activity