FBXO5
F-box protein 5, the group of F-boxes other
Basic information
Region (hg38): 6:152970519-152983579
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 FBXO5 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 | 25 | 27 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 26 | 2 | 0 |
Variants in FBXO5
This is a list of pathogenic ClinVar variants found in the FBXO5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-152971173-C-T | not specified | Uncertain significance (Aug 04, 2023) | ||
| 6-152971213-C-G | not specified | Uncertain significance (Oct 10, 2023) | ||
| 6-152971228-C-T | not specified | Uncertain significance (May 12, 2024) | ||
| 6-152971260-G-A | not specified | Uncertain significance (Dec 19, 2022) | ||
| 6-152971380-T-C | not specified | Uncertain significance (Sep 14, 2023) | ||
| 6-152972285-T-C | not specified | Likely benign (Oct 20, 2024) | ||
| 6-152972291-C-T | not specified | Uncertain significance (May 09, 2023) | ||
| 6-152972433-G-A | not specified | Uncertain significance (May 14, 2024) | ||
| 6-152973051-C-G | not specified | Uncertain significance (Mar 05, 2024) | ||
| 6-152973110-T-C | not specified | Uncertain significance (Sep 26, 2023) | ||
| 6-152974917-C-A | not specified | Uncertain significance (Oct 12, 2021) | ||
| 6-152974955-T-C | not specified | Uncertain significance (Nov 30, 2022) | ||
| 6-152974970-C-T | not specified | Uncertain significance (Oct 24, 2024) | ||
| 6-152975076-G-C | not specified | Uncertain significance (Dec 11, 2024) | ||
| 6-152975093-C-T | not specified | Uncertain significance (Apr 25, 2023) | ||
| 6-152975120-C-G | not specified | Uncertain significance (Oct 12, 2022) | ||
| 6-152975166-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
| 6-152975217-C-T | not specified | Likely benign (Feb 12, 2025) | ||
| 6-152975226-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 6-152975313-T-C | not specified | Uncertain significance (Jun 24, 2022) | ||
| 6-152975378-T-C | not specified | Uncertain significance (Jun 07, 2024) | ||
| 6-152975429-G-A | not specified | Uncertain significance (Jul 09, 2021) | ||
| 6-152975531-G-T | not specified | Uncertain significance (Aug 20, 2024) | ||
| 6-152975561-T-C | not specified | Uncertain significance (Oct 24, 2023) | ||
| 6-152975594-G-A | not specified | Uncertain significance (Feb 12, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FBXO5 | protein_coding | protein_coding | ENST00000229758 | 5 | 13051 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.970 | 0.0300 | 125710 | 0 | 8 | 125718 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.822 | 191 | 226 | 0.846 | 0.0000111 | 2910 |
| Missense in Polyphen | 28 | 54.73 | 0.5116 | 724 | ||
| Synonymous | 0.684 | 76 | 84.0 | 0.905 | 0.00000412 | 847 |
| Loss of Function | 3.69 | 2 | 19.7 | 0.102 | 0.00000126 | 239 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000868 | 0.0000868 |
| Ashkenazi Jewish | 0.000133 | 0.0000992 |
| East Asian | 0.0000648 | 0.0000544 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000364 | 0.0000352 |
| Middle Eastern | 0.0000648 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulator of APC activity during mitotic and meiotic cell cycle (PubMed:17485488, PubMed:17234884, PubMed:17875940, PubMed:23708001, PubMed:23708605, PubMed:16921029). During mitotic cell cycle plays a role as both substrate and inhibitor of APC- FZR1 complex (PubMed:29875408, PubMed:17485488, PubMed:17234884, PubMed:17875940, PubMed:23708001, PubMed:23708605, PubMed:16921029). During G1 phase, plays a role as substrate of APC-FZR1 complex E3 ligase (PubMed:29875408). Then switches as an inhibitor of APC-FZR1 complex during S and G2 leading to cell- cycle commitment (PubMed:29875408). As APC inhibitor, prevents the degradation of APC substrates at multiple levels: by interacting with APC and blocking access of APC substrates to the D-box coreceptor, formed by FZR1 and ANAPC10; by suppressing ubiquitin ligation and chain elongation by APC by preventing the UBE2C and UBE2S activities (PubMed:23708605, PubMed:23708001, PubMed:16921029). Plays a role in genome integrity preservation by coordinating DNA replication with mitosis through APC inhibition in interphase to stabilize CCNA2 and GMNN in order to promote mitosis and prevent rereplication and DNA damage-induced cellular senescence (PubMed:17234884, PubMed:17485488, PubMed:17875940). During oocyte maturation, plays a role in meiosis through inactivation of APC-FZR1 complex. Inhibits APC through RPS6KA2 interaction that increases FBXO5 affiniy for CDC20 leading to the metaphase arrest of the second meiotic division before fertilization (By similarity). Controls entry into the first meiotic division through inactivation of APC-FZR1 complex (By similarity). Promotes migration and osteogenic differentiation of mesenchymal stem cells (PubMed:29850565). {ECO:0000250|UniProtKB:Q7TSG3, ECO:0000269|PubMed:16921029, ECO:0000269|PubMed:17234884, ECO:0000269|PubMed:17485488, ECO:0000269|PubMed:17875940, ECO:0000269|PubMed:23708001, ECO:0000269|PubMed:23708605, ECO:0000269|PubMed:29850565, ECO:0000269|PubMed:29875408}.;
- Pathway
- Oocyte meiosis - Homo sapiens (human);Mitotic G1-G1-S phases;Activation of E2F1 target genes at G1/S;G1/S-Specific Transcription;Mitotic G1-G1/S phases;G1/S Transition;Mitotic Metaphase/Anaphase Transition;Mitotic Metaphase and Anaphase;M Phase;Phosphorylation of Emi1;SCF-beta-TrCP mediated degradation of Emi1;Regulation of APC/C activators between G1/S and early anaphase;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Cell Cycle, Mitotic;PLK1 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.109
Intolerance Scores
- loftool
- 0.124
- rvis_EVS
- 0.44
- rvis_percentile_EVS
- 77.7
Haploinsufficiency Scores
- pHI
- 0.655
- hipred
- Y
- hipred_score
- 0.743
- ghis
- 0.637
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.860
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fbxo5
- 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); cellular phenotype;
Zebrafish Information Network
- Gene name
- fbxo5
- Affected structure
- myeloid lineage restricted progenitor cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- regulation of transcription involved in G1/S transition of mitotic cell cycle;oocyte maturation;regulation of DNA replication;spindle assembly involved in female meiosis I;regulation of mitotic cell cycle;positive regulation of cell population proliferation;positive regulation of G2/M transition of mitotic cell cycle;vesicle organization;protein ubiquitination;anaphase-promoting complex-dependent catabolic process;negative regulation of DNA endoreduplication;positive regulation of osteoblast differentiation;negative regulation of meiotic nuclear division;negative regulation of mitotic metaphase/anaphase transition;microtubule polymerization;cell division;negative regulation of ubiquitin-protein transferase activity;positive regulation of biomineral tissue development;regulation of mitotic cell cycle phase transition;negative regulation of ubiquitin protein ligase activity;positive regulation of mesenchymal stem cell migration;negative regulation of cellular senescence;negative regulation of response to DNA damage stimulus
- Cellular component
- nucleus;nucleoplasm;cytoplasm;spindle;cytosol;meiotic spindle
- Molecular function
- protein binding;anaphase-promoting complex binding;protein kinase binding;metal ion binding;ubiquitin ligase inhibitor activity