KLK10

kallikrein related peptidase 10, the group of Kallikreins

Basic information

Region (hg38): 19:51012738-51020175

Previous symbols: [ "PRSSL1" ]

Links

ENSG00000129451 ∙ NCBI:5655 ∙ OMIM:602673 ∙ HGNC:6358 ∙ Uniprot:O43240 ∙ 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 KLK10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK10 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			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in KLK10

This is a list of pathogenic ClinVar variants found in the KLK10 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51014859-C-G		not specified	Uncertain significance (Sep 16, 2021)
19-51014918-G-A		not specified	Uncertain significance (Mar 23, 2023)
19-51014939-C-T		not specified	Uncertain significance (Dec 20, 2023)
19-51014940-C-T		not specified	Uncertain significance (Oct 25, 2023)
19-51015436-C-T		not specified	Likely benign (Jan 27, 2022)
19-51015458-T-C		not specified	Uncertain significance (Mar 20, 2023)
19-51015503-G-A		not specified	Uncertain significance (Aug 02, 2022)
19-51015887-C-T		not specified	Uncertain significance (Aug 04, 2021)
19-51015888-G-A		not specified	Uncertain significance (Nov 15, 2021)
19-51015899-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-51015909-C-T		not specified	Uncertain significance (Jul 12, 2022)
19-51015929-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-51015930-C-T		not specified	Uncertain significance (Aug 16, 2021)
19-51015944-C-T		not specified	Likely benign (Oct 27, 2022)
19-51015945-G-C		not specified	Uncertain significance (May 20, 2024)
19-51015971-C-A		not specified	Uncertain significance (May 14, 2024)
19-51015984-C-T		not specified	Uncertain significance (Dec 14, 2022)
19-51015987-C-G		not specified	Uncertain significance (Sep 16, 2021)
19-51015989-G-A		not specified	Uncertain significance (Jun 16, 2024)
19-51016026-C-T		not specified	Uncertain significance (Jul 05, 2023)
19-51016085-C-T		not specified	Uncertain significance (Apr 18, 2023)
19-51016086-G-A		not specified	Uncertain significance (Apr 12, 2024)
19-51016095-G-A		not specified	Uncertain significance (Jun 10, 2024)
19-51017242-T-C		not specified	Uncertain significance (Dec 28, 2022)
19-51019066-G-A		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK10	protein_coding	protein_coding	ENST00000309958	5	7437

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.37e-7	0.224	125718	1	27	125746	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.469	144	161	0.896	0.00000908	1707
Missense in Polyphen		37	43.042	0.85963		505
Synonymous	-0.317	73	69.6	1.05	0.00000391	583
Loss of Function	0.140	10	10.5	0.953	5.89e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000293	0.000293
Ashkenazi Jewish	0.00	0.00
East Asian	0.000237	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000766	0.0000703
Middle Eastern	0.000237	0.000217
South Asian	0.000196	0.000163
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has a tumor-suppressor role for NES1 in breast and prostate cancer.

Recessive Scores

• pRec: 0.247

Intolerance Scores

• loftool: 0.0949
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.52

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.180
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.454

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klk10

Gene ontology

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