FBXW11
F-box and WD repeat domain containing 11, the group of F-box and WD repeat domain containing|WD repeat domain containing
Basic information
Region (hg38): 5:171861549-172006873
Previous symbols: [ "FBXW1B" ]
Links
Phenotypes
GenCC
Source:
- neurodevelopmental, jaw, eye, and digital syndrome (Limited), mode of inheritance: AD
- neurodevelopmental, jaw, eye, and digital syndrome (Strong), mode of inheritance: AD
- syndromic intellectual disability (Supportive), mode of inheritance: AD
- neurodevelopmental, jaw, eye, and digital syndrome (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Neurodevelopmental, jaw, eye, and digital syndrome | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic | 31402090 |
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 FBXW11 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 | 4 | |||||
| missense | 50 | 57 | ||||
| nonsense | 5 | |||||
| start loss | 0 | |||||
| frameshift | 5 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | |||||
| splice region | 1 | 1 | 2 | |||
| non coding | 1 | |||||
| Total | 0 | 7 | 63 | 3 | 1 |
Variants in FBXW11
This is a list of pathogenic ClinVar variants found in the FBXW11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-171868609-C-T | Uncertain significance (May 10, 2024) | |||
| 5-171868621-G-C | not specified | Uncertain significance (Jul 08, 2024) | ||
| 5-171868641-A-C | Likely benign (Mar 01, 2025) | |||
| 5-171868663-G-C | Uncertain significance (May 28, 2024) | |||
| 5-171868665-G-C | Likely benign (Mar 01, 2025) | |||
| 5-171868672-C-T | not specified | Uncertain significance (May 02, 2024) | ||
| 5-171868768-T-C | Uncertain significance (Jul 25, 2024) | |||
| 5-171868775-G-A | Uncertain significance (Apr 18, 2024) | |||
| 5-171868784-G-A | not specified • Neurodevelopmental, jaw, eye, and digital syndrome | Uncertain significance (Mar 04, 2025) | ||
| 5-171869737-T-G | Uncertain significance (Jun 07, 2023) | |||
| 5-171869751-G-A | Uncertain significance (Feb 15, 2022) | |||
| 5-171869763-G-A | Uncertain significance (Feb 01, 2024) | |||
| 5-171869770-G-C | Neurodevelopmental, jaw, eye, and digital syndrome | Uncertain significance (Aug 12, 2022) | ||
| 5-171869779-C-T | Neurodevelopmental, jaw, eye, and digital syndrome | Uncertain significance (Nov 25, 2020) | ||
| 5-171869802-A-G | not specified | Uncertain significance (Oct 20, 2024) | ||
| 5-171870754-T-C | Uncertain significance (Feb 09, 2024) | |||
| 5-171870787-C-T | Uncertain significance (Mar 12, 2024) | |||
| 5-171870794-A-G | Neurodevelopmental, jaw, eye, and digital syndrome | Uncertain significance (Oct 31, 2023) | ||
| 5-171870796-C-A | Neurodevelopmental, jaw, eye, and digital syndrome | Likely pathogenic (Apr 13, 2021) | ||
| 5-171870796-C-T | Neurodevelopmental, jaw, eye, and digital syndrome | Pathogenic/Likely pathogenic (Jul 01, 2024) | ||
| 5-171870806-C-T | Neurodevelopmental, jaw, eye, and digital syndrome | Likely pathogenic (Apr 20, 2023) | ||
| 5-171872872-C-T | Neurodevelopmental, jaw, eye, and digital syndrome | not provided (-) | ||
| 5-171872885-C-CTGAT | Uncertain significance (Jan 29, 2024) | |||
| 5-171872923-A-C | Uncertain significance (Feb 13, 2024) | |||
| 5-171872935-C-A | Neurodevelopmental, jaw, eye, and digital syndrome | Likely pathogenic (Apr 19, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FBXW11 | protein_coding | protein_coding | ENST00000265094 | 12 | 145325 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.976 | 0.0239 | 125729 | 0 | 6 | 125735 | 0.0000239 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.96 | 115 | 312 | 0.369 | 0.0000179 | 3539 |
| Missense in Polyphen | 21 | 121.22 | 0.17324 | 1380 | ||
| Synonymous | 0.392 | 107 | 112 | 0.953 | 0.00000595 | 1024 |
| Loss of Function | 4.56 | 5 | 33.5 | 0.149 | 0.00000195 | 369 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.0000463 | 0.0000462 |
| European (Non-Finnish) | 0.0000268 | 0.0000264 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling. SCF(FBXW11) mediates the ubiquitination of phosphorylated NFKBIA, which degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. SCF(FBXW11) mediates the ubiquitination of IFNAR1. SCF(FBXW11) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25503564). Involved in the oxidative stress-induced a ubiquitin-mediated decrease in RCAN1. Mediates the degradation of CDC25A induced by ionizing radiation in cells progressing through S phase and thus may function in the intra-S- phase checkpoint. Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and phosphorylated PER2. SCF(FBXW11) mediates the ubiquitination of CYTH1, and probably CYTH2 (PubMed:29420262). {ECO:0000269|PubMed:10321728, ECO:0000269|PubMed:10437795, ECO:0000269|PubMed:10644755, ECO:0000269|PubMed:10648623, ECO:0000269|PubMed:14532120, ECO:0000269|PubMed:14603323, ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:18575781, ECO:0000269|PubMed:19966869, ECO:0000269|PubMed:20347421, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:29420262}.;
- Pathway
- Circadian rhythm - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Shigellosis - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Hedgehog signaling pathway - Homo sapiens (human);WNT-Ncore;TGF-Ncore;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in squamous cell - TarBase;TNF alpha Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signaling by Interleukins;Prolactin;NIK-->noncanonical NF-kB signaling;TNFR2 non-canonical NF-kB pathway;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;Toll-Like Receptors Cascades;Post-translational protein modification;Activation of NF-kappaB in B cells;Metabolism of proteins;Signaling by the B Cell Receptor (BCR);Interleukin-1 signaling;Dectin-1 mediated noncanonical NF-kB signaling;CLEC7A (Dectin-1) signaling;C-type lectin receptors (CLRs);Innate Immune System;Immune System;Adaptive Immune System;Downstream signaling events of B Cell Receptor (BCR);Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Regulation of PLK1 Activity at G2/M Transition;MAP3K8 (TPL2)-dependent MAPK1/3 activation;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;Neddylation;MyD88 dependent cascade initiated on endosome;G2/M Transition;Mitotic G2-G2/M phases;Cell Cycle;TNFalpha;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;Cell Cycle, Mitotic;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Hedgehog signaling events mediated by Gli proteins;Presenilin action in Notch and Wnt signaling;Signaling events mediated by VEGFR1 and VEGFR2;Interleukin-1 family signaling
(Consensus)
Recessive Scores
- pRec
- 0.160
Intolerance Scores
- loftool
- 0.354
- rvis_EVS
- -0.47
- rvis_percentile_EVS
- 23.04
Haploinsufficiency Scores
- pHI
- 0.633
- hipred
- Y
- hipred_score
- 0.840
- ghis
- 0.693
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.996
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fbxw11
- Phenotype
- 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); 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); immune system phenotype; digestive/alimentary phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- G2/M transition of mitotic cell cycle;protein polyubiquitination;protein dephosphorylation;Wnt signaling pathway;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;protein destabilization;NIK/NF-kappaB signaling;positive regulation of circadian rhythm;proteasome-mediated ubiquitin-dependent protein catabolic process;post-translational protein modification;positive regulation of proteolysis;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;rhythmic process;stress-activated MAPK cascade;interleukin-1-mediated signaling pathway;negative regulation of NIK/NF-kappaB signaling
- Cellular component
- ubiquitin ligase complex;nucleus;centrosome;cytosol;SCF ubiquitin ligase complex
- Molecular function
- ubiquitin-protein transferase activity;protein binding;protein dimerization activity;ubiquitin protein ligase activity