FKBP8
FKBP prolyl isomerase 8, the group of FKBP prolyl isomerases|Tetratricopeptide repeat domain containing
Basic information
Region (hg38): 19:18531751-18544077
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (46 variants)
- not_provided (2 variants)
- Marfanoid_habitus_and_intellectual_disability (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKBP8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012181.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 46 | 47 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 46 | 2 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FKBP8 | protein_coding | protein_coding | ENST00000608443 | 8 | 12327 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.998 | 0.00175 | 125715 | 0 | 2 | 125717 | 0.00000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.33 | 166 | 275 | 0.605 | 0.0000186 | 2642 |
| Missense in Polyphen | 23 | 69.368 | 0.33156 | 758 | ||
| Synonymous | -0.207 | 132 | 129 | 1.02 | 0.00000989 | 868 |
| Loss of Function | 3.99 | 0 | 18.5 | 0.00 | 8.76e-7 | 210 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000880 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. {ECO:0000269|PubMed:12510191, ECO:0000269|PubMed:15757646, ECO:0000269|PubMed:16176796}.;
- Pathway
- Senescence and Autophagy in Cancer;Post-translational protein modification;Metabolism of proteins;insulin Mam;Ub-specific processing proteases;Deubiquitination;Role of Calcineurin-dependent NFAT signaling in lymphocytes
(Consensus)
Recessive Scores
- pRec
- 0.162
Intolerance Scores
- loftool
- 0.0296
- rvis_EVS
- -0.58
- rvis_percentile_EVS
- 18.72
Haploinsufficiency Scores
- pHI
- 0.148
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.539
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.937
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fkbp8
- Phenotype
- growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; embryo 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); vision/eye phenotype; limbs/digits/tail 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); skeleton phenotype;
Gene ontology
- Biological process
- protein peptidyl-prolyl isomerization;cell fate specification;negative regulation of protein phosphorylation;apoptotic process;smoothened signaling pathway;viral process;dorsal/ventral neural tube patterning;positive regulation of BMP signaling pathway;multicellular organism growth;intracellular signal transduction;camera-type eye development;negative regulation of apoptotic process
- Cellular component
- mitochondrion;endoplasmic reticulum;cytosol;membrane;integral component of endoplasmic reticulum membrane;mitochondrial membrane;protein-containing complex
- Molecular function
- peptidyl-prolyl cis-trans isomerase activity;protein binding;identical protein binding;metal ion binding;disordered domain specific binding