KLK9

kallikrein related peptidase 9, the group of Kallikreins

Basic information

Region (hg38): 19:51002508-51009634

Links

ENSG00000213022 ∙ NCBI:284366 ∙ OMIM:605504 ∙ HGNC:6370 ∙ Uniprot:Q9UKQ9 ∙ 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 KLK9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK9 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in KLK9

This is a list of pathogenic ClinVar variants found in the KLK9 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51003149-G-A		not specified	Uncertain significance (Feb 13, 2024)
19-51003178-C-T		not specified	Uncertain significance (Jan 12, 2024)
19-51003239-C-A		not specified	Uncertain significance (Jan 02, 2024)
19-51003739-C-T		not specified	Uncertain significance (Dec 07, 2021)
19-51006517-C-T		not specified	Uncertain significance (May 01, 2024)
19-51006518-A-G		not specified	Uncertain significance (Dec 28, 2022)
19-51006611-C-T		not specified	Uncertain significance (Jul 06, 2021)
19-51006658-C-T		not specified	Uncertain significance (Dec 09, 2023)
19-51006710-G-A		not specified	Uncertain significance (Jul 14, 2021)
19-51009234-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-51009259-G-A		not specified	Likely benign (Sep 22, 2023)
19-51009268-C-T		not specified	Uncertain significance (Feb 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK9	protein_coding	protein_coding	ENST00000376832	5	9085

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.30e-7	0.212	125611	1	132	125744	0.000529

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.106	147	151	0.976	0.00000884	1608
Missense in Polyphen		64	65.276	0.98045		710
Synonymous	0.707	53	60.0	0.884	0.00000346	508
Loss of Function	0.216	11	11.8	0.932	6.80e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000328	0.000327
Ashkenazi Jewish	0.000127	0.0000992
East Asian	0.000439	0.000435
Finnish	0.00439	0.00435
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.000439	0.000435
South Asian	0.000131	0.000131
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.296
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.116
• hipred: N
• hipred_score: 0.146
• ghis: 0.493

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.169

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klk9

Gene ontology

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