KLK7

kallikrein related peptidase 7, the group of Serine proteases|Kallikreins

Basic information

Region (hg38): 19:50976468-50984099

Previous symbols: [ "PRSS6" ]

Links

ENSG00000169035 ∙ NCBI:5650 ∙ OMIM:604438 ∙ HGNC:6368 ∙ Uniprot:P49862 ∙ 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 KLK7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK7 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					3	3
missense			23		1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	4

Variants in KLK7

This is a list of pathogenic ClinVar variants found in the KLK7 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-50977573-G-A			Benign (Apr 23, 2018)
19-50977578-C-G		not specified	Uncertain significance (Feb 01, 2023)
19-50977620-G-A			Benign (Dec 31, 2019)
19-50977674-C-A			Benign (Aug 29, 2018)
19-50977675-G-A		not specified	Uncertain significance (Jul 11, 2022)
19-50979799-T-G		not specified	Uncertain significance (Nov 03, 2022)
19-50979861-T-C		not specified	Uncertain significance (Jun 29, 2022)
19-50979867-C-G		not specified	Uncertain significance (Jun 13, 2024)
19-50979879-G-C		not specified	Uncertain significance (May 16, 2022)
19-50979898-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-50979901-A-T		not specified	Uncertain significance (Oct 22, 2021)
19-50980241-A-T		not specified	Uncertain significance (Jun 21, 2023)
19-50980251-G-A		not specified	Uncertain significance (Oct 27, 2022)
19-50980268-G-A			Benign (Dec 31, 2019)
19-50980279-A-C		not specified	Uncertain significance (Apr 20, 2024)
19-50980294-G-A		not specified	Uncertain significance (Apr 15, 2024)
19-50980333-A-G		not specified	Uncertain significance (Nov 27, 2023)
19-50980368-A-G		not specified	Uncertain significance (May 02, 2023)
19-50980381-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-50980402-C-T		not specified	Uncertain significance (May 03, 2023)
19-50980434-C-G		not specified	Uncertain significance (Feb 22, 2023)
19-50980448-G-C		not specified	Uncertain significance (Oct 12, 2021)
19-50980477-C-T		not specified	Uncertain significance (Oct 05, 2021)
19-50981800-C-G		not specified	Uncertain significance (Jun 03, 2024)
19-50981801-G-A		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK7	protein_coding	protein_coding	ENST00000391807	5	7627

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000647	0.751	125706	0	12	125718	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0322	151	150	1.01	0.00000851	1619
Missense in Polyphen		42	56.113	0.74849		623
Synonymous	-0.779	72	64.1	1.12	0.00000402	508
Loss of Function	0.961	6	9.14	0.657	3.89e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000132	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000428	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.000108	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6- Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|- Thr-27'. Could play a role in the activation of precursors to inflammatory cytokines. {ECO:0000269|PubMed:23370777}.
• Pathway: Extracellular matrix organization;Degradation of the extracellular matrix (Consensus)

Recessive Scores

• pRec: 0.152

Intolerance Scores

• loftool: 0.105
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.41

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.180
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.849

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klk7
• Phenotype: homeostasis/metabolism phenotype; normal phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: positive regulation of antibacterial peptide production;proteolysis;epidermis development;extracellular matrix disassembly
• Cellular component: extracellular region;extracellular space;secretory granule;epidermal lamellar body
• Molecular function: metalloendopeptidase activity;serine-type endopeptidase activity;peptidase activity;serine-type peptidase activity