KCNK5
Basic information
Region (hg38): 6:39188971-39229475
Links
Phenotypes
GenCC
Source:
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 KCNK5 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 | 2 | |||||
missense | 28 | 32 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 28 | 4 | 2 |
Variants in KCNK5
This is a list of pathogenic ClinVar variants found in the KCNK5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-39190997-G-T | Benign (Oct 29, 2020) | |||
6-39191065-T-C | not specified | Uncertain significance (Sep 16, 2021) | ||
6-39191171-C-T | Benign (Nov 02, 2017) | |||
6-39191183-C-T | not specified | Uncertain significance (Mar 02, 2023) | ||
6-39191205-C-T | Likely benign (Apr 10, 2018) | |||
6-39191217-G-C | not specified | Uncertain significance (Sep 14, 2023) | ||
6-39191225-C-T | not specified | Uncertain significance (Nov 08, 2022) | ||
6-39191249-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
6-39191264-C-G | not specified | Uncertain significance (Jan 30, 2024) | ||
6-39191288-C-T | not specified | Uncertain significance (Oct 02, 2023) | ||
6-39191296-T-A | KCNK5-related disorder | Likely benign (Mar 18, 2022) | ||
6-39191308-G-A | not specified | Uncertain significance (Dec 03, 2021) | ||
6-39191336-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
6-39191339-G-A | not specified | Uncertain significance (Feb 02, 2022) | ||
6-39191396-C-T | KCNK5-related disorder | Likely benign (May 09, 2022) | ||
6-39191441-C-G | not specified | Uncertain significance (Dec 14, 2023) | ||
6-39191442-G-A | Likely benign (Sep 01, 2022) | |||
6-39191461-T-C | not specified | Uncertain significance (Nov 07, 2022) | ||
6-39191528-C-T | not specified | Uncertain significance (Jan 06, 2023) | ||
6-39191570-G-C | not specified | Uncertain significance (Jun 09, 2022) | ||
6-39191611-C-T | not specified | Uncertain significance (Aug 09, 2021) | ||
6-39191720-G-A | not specified | Uncertain significance (Jul 08, 2022) | ||
6-39194262-C-T | not specified | Uncertain significance (Oct 13, 2023) | ||
6-39194301-C-T | not specified | Uncertain significance (Apr 12, 2022) | ||
6-39194321-G-A | not specified | Uncertain significance (Jan 12, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KCNK5 | protein_coding | protein_coding | ENST00000359534 | 5 | 40478 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.325 | 0.674 | 125738 | 0 | 10 | 125748 | 0.0000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.97 | 203 | 299 | 0.680 | 0.0000185 | 3238 |
Missense in Polyphen | 63 | 120.09 | 0.52462 | 1294 | ||
Synonymous | -0.284 | 138 | 134 | 1.03 | 0.00000917 | 1027 |
Loss of Function | 2.95 | 4 | 17.2 | 0.232 | 8.30e-7 | 199 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000185 | 0.000185 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000354 | 0.0000352 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.0000653 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations.;
- Pathway
- Protein digestion and absorption - Homo sapiens (human);Taste transduction - Homo sapiens (human);Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction
(Consensus)
Recessive Scores
- pRec
- 0.114
Intolerance Scores
- loftool
- 0.160
- rvis_EVS
- 0.0000761
- rvis_percentile_EVS
- 53.98
Haploinsufficiency Scores
- pHI
- 0.506
- hipred
- Y
- hipred_score
- 0.728
- ghis
- 0.426
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.587
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kcnk5
- Phenotype
- homeostasis/metabolism phenotype; 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); growth/size/body region 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); renal/urinary system phenotype; respiratory system phenotype;
Zebrafish Information Network
- Gene name
- kcnk5b
- Affected structure
- lepidotrichium segment
- Phenotype tag
- abnormal
- Phenotype quality
- increased variability of size
Gene ontology
- Biological process
- potassium ion transport;excretion;stabilization of membrane potential;regulation of ion transmembrane transport;potassium ion transmembrane transport
- Cellular component
- integral component of plasma membrane
- Molecular function
- voltage-gated potassium channel activity;potassium channel activity;potassium ion leak channel activity