KLK8
kallikrein related peptidase 8, the group of Kallikreins|Serine proteases
Basic information
Region (hg38): 19:50996007-51002711
Previous symbols: [ "PRSS19" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK8 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 | 14 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 1 | 0 |
Variants in KLK8
This is a list of pathogenic ClinVar variants found in the KLK8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-50996081-T-G | not specified | Uncertain significance (Mar 12, 2024) | ||
| 19-50996112-T-C | not specified | Uncertain significance (Mar 24, 2023) | ||
| 19-50996133-C-A | not specified | Uncertain significance (Jan 09, 2024) | ||
| 19-50997755-C-T | not specified | Uncertain significance (Sep 26, 2022) | ||
| 19-50997774-T-C | not specified | Uncertain significance (Oct 26, 2021) | ||
| 19-50997825-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
| 19-51000038-T-G | not specified | Uncertain significance (Dec 19, 2023) | ||
| 19-51000070-C-T | not specified | Likely benign (Jun 17, 2024) | ||
| 19-51000158-T-C | not specified | Uncertain significance (May 30, 2023) | ||
| 19-51000511-G-A | not specified | Uncertain significance (Nov 08, 2022) | ||
| 19-51000533-G-A | not specified | Uncertain significance (May 09, 2024) | ||
| 19-51000601-G-C | not specified | Uncertain significance (Aug 17, 2021) | ||
| 19-51000670-G-A | not specified | Likely benign (Jan 07, 2022) | ||
| 19-51000715-C-A | not specified | Uncertain significance (Dec 20, 2023) | ||
| 19-51001113-C-G | not specified | Uncertain significance (May 13, 2024) | ||
| 19-51001130-A-G | not specified | Uncertain significance (May 20, 2024) | ||
| 19-51001154-C-T | not specified | Uncertain significance (Apr 15, 2024) | ||
| 19-51001157-G-T | not specified | Uncertain significance (Nov 13, 2023) | ||
| 19-51001158-G-T | not specified | Uncertain significance (Jun 29, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KLK8 | protein_coding | protein_coding | ENST00000391806 | 5 | 6705 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000885 | 0.939 | 125714 | 0 | 33 | 125747 | 0.000131 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.854 | 147 | 179 | 0.820 | 0.00000941 | 1978 |
| Missense in Polyphen | 49 | 69.889 | 0.70111 | 804 | ||
| Synonymous | 0.139 | 72 | 73.5 | 0.979 | 0.00000423 | 610 |
| Loss of Function | 1.70 | 9 | 16.5 | 0.547 | 9.76e-7 | 149 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000764 | 0.000764 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000218 | 0.000217 |
| Finnish | 0.0000464 | 0.0000462 |
| European (Non-Finnish) | 0.000106 | 0.000105 |
| Middle Eastern | 0.000218 | 0.000217 |
| South Asian | 0.0000344 | 0.0000327 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer- collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury. {ECO:0000269|PubMed:16337200}.;
- Pathway
- Spinal Cord Injury;Keratinization;Developmental Biology;Formation of the cornified envelope
(Consensus)
Recessive Scores
- pRec
- 0.239
Intolerance Scores
- loftool
- 0.110
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 37.11
Haploinsufficiency Scores
- pHI
- 0.0565
- hipred
- N
- hipred_score
- 0.173
- ghis
- 0.531
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.392
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Klk8
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); 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); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- proteolysis;memory;cell death;response to wounding;negative regulation of myelination;keratinocyte proliferation;negative regulation of axon regeneration;neuron projection morphogenesis;regulation of synapse organization;synapse organization
- Cellular component
- extracellular region;extracellular space;cytoplasm;secretory granule;serine protease inhibitor complex
- Molecular function
- serine-type endopeptidase activity;protein binding