KLK15

kallikrein related peptidase 15, the group of Kallikreins

Basic information

Region (hg38): 19:50825289-50837213

Links

ENSG00000174562NCBI:55554OMIM:610601HGNC:20453Uniprot:Q9H2R5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KLK15 gene.

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.

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
16
clinvar
1
clinvar
17
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 16 1 0

Variants in KLK15

This is a list of pathogenic ClinVar variants found in the KLK15 region.

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

Position Type Phenotype Significance ClinVar
19-50825808-C-T not specified Uncertain significance (Jul 05, 2023)2595487
19-50825809-A-C not specified Uncertain significance (Sep 26, 2024)3535351
19-50825819-T-C not specified Uncertain significance (Apr 17, 2023)2537100
19-50825851-T-C not specified Uncertain significance (Jul 13, 2022)2301768
19-50825861-G-C Likely benign (Apr 01, 2023)2650364
19-50825885-C-T not specified Uncertain significance (Apr 09, 2024)2384332
19-50825902-A-G not specified Uncertain significance (Jan 17, 2024)3115843
19-50826665-T-C not specified Uncertain significance (Jun 01, 2023)2555160
19-50826680-G-A not specified Uncertain significance (Dec 18, 2023)3115842
19-50826889-G-C not specified Uncertain significance (Dec 02, 2024)3535352
19-50826890-G-A not specified Uncertain significance (Dec 11, 2023)3115841
19-50827000-G-C not specified Uncertain significance (Aug 12, 2021)2243217
19-50827004-T-G not specified Uncertain significance (Aug 14, 2023)2595639
19-50827117-T-C not specified Uncertain significance (Dec 08, 2023)3115839
19-50827118-C-T not specified Uncertain significance (Jul 30, 2024)3535350
19-50827121-G-T not specified Uncertain significance (Jun 06, 2023)2558205
19-50827150-A-G not specified Uncertain significance (May 06, 2024)3289073
19-50827152-T-A not specified Uncertain significance (May 06, 2024)3289072
19-50827155-C-G not specified Uncertain significance (May 13, 2024)3289074
19-50827671-C-T not specified Uncertain significance (Mar 01, 2024)3115838
19-50827728-C-T not specified Uncertain significance (Sep 17, 2021)2251268
19-50827761-T-C not specified Uncertain significance (Feb 06, 2024)3115844
19-50827804-C-T not specified Uncertain significance (Sep 30, 2021)2395259

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KLK15protein_codingprotein_codingENST00000598239 511925
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01520.8871256881591257480.000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2131581660.9530.00001061617
Missense in Polyphen4156.2880.72839633
Synonymous0.6646471.10.9000.00000484539
Loss of Function1.3948.310.4813.55e-795

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001370.00135
Ashkenazi Jewish0.0002000.000198
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001690.000158
Middle Eastern0.000.00
South Asian0.0003890.000359
Other0.0003310.000326

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Klk15
Phenotype

Gene ontology

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