FKBP5
Basic information
Region (hg38): 6:35573585-35728583
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 FKBP5 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 | 1 | |||||
missense | 18 | 20 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 2 | |||||
Total | 0 | 0 | 18 | 2 | 3 |
Variants in FKBP5
This is a list of pathogenic ClinVar variants found in the FKBP5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-35574699-C-A | Benign (Jan 18, 2019) | |||
6-35575854-T-C | not specified | Uncertain significance (Nov 29, 2021) | ||
6-35575888-T-C | not specified | Uncertain significance (Dec 21, 2022) | ||
6-35575900-C-A | Likely benign (Sep 19, 2018) | |||
6-35575930-T-C | not specified | Uncertain significance (Nov 21, 2022) | ||
6-35575942-C-T | not specified | Uncertain significance (Dec 15, 2023) | ||
6-35577044-G-A | not specified | Uncertain significance (Sep 22, 2022) | ||
6-35577081-C-T | not specified | Uncertain significance (Aug 12, 2021) | ||
6-35580202-G-A | not specified | Uncertain significance (Jun 01, 2023) | ||
6-35580221-C-T | not specified | Uncertain significance (Mar 28, 2024) | ||
6-35591140-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
6-35591162-T-C | not specified | Uncertain significance (Dec 08, 2023) | ||
6-35607710-G-A | Susceptibility to severe depressive disorder | Likely risk allele (Jul 01, 2022) | ||
6-35611598-A-C | Susceptibility to severe depressive disorder | Likely risk allele (Jul 01, 2022) | ||
6-35619125-G-A | not specified | Uncertain significance (Jan 10, 2023) | ||
6-35619178-T-G | not specified | Uncertain significance (Jun 16, 2023) | ||
6-35620178-G-T | not specified | Uncertain significance (Apr 13, 2022) | ||
6-35620218-A-G | not specified | Uncertain significance (Nov 10, 2021) | ||
6-35637066-C-A | not specified | Uncertain significance (Jun 29, 2023) | ||
6-35637134-C-T | not specified | Uncertain significance (May 23, 2023) | ||
6-35637157-A-G | not specified | Uncertain significance (Nov 21, 2023) | ||
6-35639490-T-G | Asthma | risk factor (Jun 20, 2019) | ||
6-35639794-T-C | Post-traumatic stress disorder | Likely risk allele (-) | ||
6-35639794-T-T | Antidepressant drug treatment, accelerated response to • | drug response; risk factor (Dec 01, 2004) | ||
6-35640178-C-T | Benign (Jul 15, 2020) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FKBP5 | protein_coding | protein_coding | ENST00000536438 | 10 | 154999 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.734 | 0.266 | 125733 | 0 | 12 | 125745 | 0.0000477 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.62 | 179 | 251 | 0.713 | 0.0000129 | 3020 |
Missense in Polyphen | 35 | 73.116 | 0.47869 | 838 | ||
Synonymous | 0.705 | 82 | 90.5 | 0.906 | 0.00000511 | 808 |
Loss of Function | 3.54 | 4 | 21.9 | 0.183 | 9.14e-7 | 314 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000584 | 0.0000584 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000618 | 0.0000615 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.0000654 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded.;
- Pathway
- Estrogen signaling pathway - Homo sapiens (human);Androgen Receptor Network in Prostate Cancer;Farnesoid X Receptor Pathway;Nuclear Receptors Meta-Pathway;MECP2 and Associated Rett Syndrome;Signal Transduction;HSP90 chaperone cycle for steroid hormone receptors (SHR);Cellular responses to stress;Cellular responses to external stimuli;Glucocorticoid receptor regulatory network;Signaling by Nuclear Receptors;TNFalpha;ESR-mediated signaling
(Consensus)
Recessive Scores
- pRec
- 0.0951
Intolerance Scores
- loftool
- 0.0822
- rvis_EVS
- -0.03
- rvis_percentile_EVS
- 51.92
Haploinsufficiency Scores
- pHI
- 0.567
- hipred
- Y
- hipred_score
- 0.654
- ghis
- 0.422
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.868
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fkbp5
- Phenotype
- renal/urinary system 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); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- protein peptidyl-prolyl isomerization;protein folding;response to bacterium;chaperone-mediated protein folding
- Cellular component
- nucleoplasm;cytoplasm;cytosol;membrane;extracellular exosome
- Molecular function
- peptidyl-prolyl cis-trans isomerase activity;protein binding;FK506 binding;heat shock protein binding