FKBP1B
FKBP prolyl isomerase 1B, the group of FKBP prolyl isomerases
Basic information
Region (hg38): 2:24049701-24063681
Previous symbols: [ "FKBP1L" ]
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 FKBP1B 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 | 1 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 0 |
Variants in FKBP1B
This is a list of pathogenic ClinVar variants found in the FKBP1B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-24060922-C-G | not specified | Uncertain significance (Apr 06, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FKBP1B | protein_coding | protein_coding | ENST00000380986 | 4 | 13981 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.394 | 0.569 | 125743 | 0 | 4 | 125747 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.21 | 31 | 56.5 | 0.548 | 0.00000286 | 703 |
| Missense in Polyphen | 9 | 17.441 | 0.51602 | 208 | ||
| Synonymous | -0.429 | 27 | 24.3 | 1.11 | 0.00000147 | 206 |
| Loss of Function | 1.65 | 1 | 4.97 | 0.201 | 2.09e-7 | 69 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000615 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000264 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.;
- Pathway
- Antiarrhythmic Pathway, Pharmacodynamics;Stimuli-sensing channels;Ion channel transport;Ion homeostasis;Transport of small molecules;Cardiac conduction;Muscle contraction
(Consensus)
Recessive Scores
- pRec
- 0.136
Intolerance Scores
- loftool
- 0.634
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 49.39
Haploinsufficiency Scores
- pHI
- 0.737
- hipred
- Y
- hipred_score
- 0.579
- ghis
- 0.636
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.914
Mouse Genome Informatics
- Gene name
- Fkbp1b
- 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; muscle phenotype;
Gene ontology
- Biological process
- protein peptidyl-prolyl isomerization;'de novo' protein folding;smooth muscle contraction;response to glucose;negative regulation of heart rate;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;neuronal action potential propagation;protein maturation by protein folding;insulin secretion;negative regulation of phosphoprotein phosphatase activity;response to vitamin E;ion transmembrane transport;calcium-mediated signaling using intracellular calcium source;protein refolding;T cell proliferation;response to hydrogen peroxide;positive regulation of axon regeneration;negative regulation of release of sequestered calcium ion into cytosol;positive regulation of sequestering of calcium ion;regulation of cytosolic calcium ion concentration;response to redox state;regulation of ryanodine-sensitive calcium-release channel activity;negative regulation of ryanodine-sensitive calcium-release channel activity;chaperone-mediated protein folding;negative regulation of insulin secretion involved in cellular response to glucose stimulus;cell communication by electrical coupling involved in cardiac conduction;regulation of cardiac conduction
- Cellular component
- cytoplasm;cytosol;membrane;Z disc;sarcoplasmic reticulum membrane;calcium channel complex
- Molecular function
- peptidyl-prolyl cis-trans isomerase activity;signaling receptor binding;ryanodine-sensitive calcium-release channel activity;protein binding;FK506 binding;calcium channel inhibitor activity;cyclic nucleotide binding;ion channel binding