CKB
creatine kinase B
Basic information
Region (hg38): 14:103519667-103522833
Previous symbols: [ "CKBB" ]
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 CKB 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 | 14 | ||||
| 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 | 0 | 0 |
Variants in CKB
This is a list of pathogenic ClinVar variants found in the CKB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-103519928-A-G | not specified | Uncertain significance (May 01, 2024) | ||
| 14-103520242-A-C | not specified | Uncertain significance (Nov 03, 2022) | ||
| 14-103520283-T-C | not specified | Uncertain significance (May 27, 2022) | ||
| 14-103520477-G-C | not specified | Uncertain significance (Dec 26, 2023) | ||
| 14-103520487-G-C | not specified | Uncertain significance (Nov 22, 2023) | ||
| 14-103520492-G-A | not specified | Uncertain significance (Oct 27, 2022) | ||
| 14-103520520-C-A | not specified | Uncertain significance (Jun 07, 2024) | ||
| 14-103520566-A-G | not specified | Uncertain significance (Jun 21, 2023) | ||
| 14-103521318-G-A | not specified | Uncertain significance (Sep 20, 2023) | ||
| 14-103521348-C-T | not specified | Uncertain significance (Mar 23, 2022) | ||
| 14-103521351-C-G | Premature ovarian insufficiency | Uncertain significance (Jan 10, 2018) | ||
| 14-103521928-T-C | not specified | Uncertain significance (Jun 06, 2022) | ||
| 14-103521944-C-T | not specified | Uncertain significance (May 31, 2023) | ||
| 14-103522033-T-C | not specified | Uncertain significance (Dec 08, 2023) | ||
| 14-103522408-T-A | not specified | Uncertain significance (May 26, 2022) | ||
| 14-103522451-G-C | not specified | Uncertain significance (Dec 28, 2022) | ||
| 14-103522489-G-A | not specified | Uncertain significance (Dec 14, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CKB | protein_coding | protein_coding | ENST00000348956 | 7 | 3453 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.219 | 0.780 | 125483 | 0 | 14 | 125497 | 0.0000558 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.32 | 131 | 230 | 0.570 | 0.0000122 | 2473 |
| Missense in Polyphen | 39 | 78.116 | 0.49926 | 932 | ||
| Synonymous | -0.600 | 108 | 100 | 1.08 | 0.00000568 | 745 |
| Loss of Function | 2.75 | 4 | 15.8 | 0.253 | 8.45e-7 | 167 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000293 | 0.000274 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000110 | 0.000109 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000458 | 0.0000441 |
| Middle Eastern | 0.000110 | 0.000109 |
| South Asian | 0.0000346 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.;
- Pathway
- Arginine and proline metabolism - Homo sapiens (human);Abacavir Pathway, Pharmacokinetics/Pharmacodynamics;Hyperornithinemia with gyrate atrophy (HOGA);Creatine deficiency, guanidinoacetate methyltransferase deficiency;L-arginine:glycine amidinotransferase deficiency;Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome];Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency);Prolinemia Type II;Prolidase Deficiency (PD);Arginine and Proline Metabolism;Hyperprolinemia Type I;Hyperprolinemia Type II;Ornithine Aminotransferase Deficiency (OAT Deficiency);Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency);Urea cycle and metabolism of amino groups;creatine-phosphate biosynthesis;Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism;Arginine Proline metabolism;Glycine, serine, alanine and threonine metabolism;Creatine metabolism
(Consensus)
Recessive Scores
- pRec
- 0.834
Intolerance Scores
- loftool
- 0.457
- rvis_EVS
- -0.41
- rvis_percentile_EVS
- 26.23
Haploinsufficiency Scores
- pHI
- 0.490
- hipred
- Y
- hipred_score
- 0.875
- ghis
- 0.648
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.991
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ckb
- Phenotype
- growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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
- creatine metabolic process;phosphorylation;cerebellum development;substantia nigra development;cellular chloride ion homeostasis
- Cellular component
- extracellular space;nucleus;cytosol;dendrite;neuronal cell body;myelin sheath;extracellular exosome
- Molecular function
- creatine kinase activity;protein binding;ATP binding;ubiquitin protein ligase binding