FBXO33
Basic information
Region (hg38): 14:39397684-39432466
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 FBXO33 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 | 49 | 52 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 49 | 2 | 2 |
Variants in FBXO33
This is a list of pathogenic ClinVar variants found in the FBXO33 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-39399559-C-T | not specified | Uncertain significance (Sep 02, 2024) | ||
14-39399580-C-T | not specified | Uncertain significance (Oct 14, 2023) | ||
14-39399590-C-T | not specified | Uncertain significance (May 14, 2024) | ||
14-39399596-C-G | not specified | Uncertain significance (Feb 12, 2025) | ||
14-39399634-A-G | not specified | Uncertain significance (Aug 15, 2023) | ||
14-39399635-C-A | not specified | Uncertain significance (Jul 05, 2022) | ||
14-39399643-A-G | not specified | Uncertain significance (Jun 29, 2023) | ||
14-39399647-G-C | not specified | Uncertain significance (Dec 09, 2024) | ||
14-39399660-A-T | not specified | Uncertain significance (Jul 12, 2023) | ||
14-39399676-G-C | not specified | Uncertain significance (Jan 10, 2023) | ||
14-39399687-T-G | not specified | Uncertain significance (May 15, 2024) | ||
14-39399688-T-C | not specified | Uncertain significance (Nov 12, 2024) | ||
14-39399716-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
14-39399766-T-C | not specified | Uncertain significance (Nov 07, 2022) | ||
14-39401263-A-G | not specified | Uncertain significance (Jan 02, 2024) | ||
14-39401291-T-G | not specified | Uncertain significance (Apr 01, 2024) | ||
14-39401314-T-G | not specified | Uncertain significance (Jan 05, 2022) | ||
14-39401365-T-C | not specified | Uncertain significance (Apr 17, 2024) | ||
14-39401399-A-T | not specified | Uncertain significance (May 13, 2024) | ||
14-39401430-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
14-39401460-C-A | not specified | Uncertain significance (Nov 22, 2023) | ||
14-39401478-C-T | not specified | Uncertain significance (May 30, 2024) | ||
14-39401529-T-G | not specified | Uncertain significance (Nov 18, 2022) | ||
14-39401544-T-C | not specified | Likely benign (Nov 13, 2023) | ||
14-39401565-C-T | not specified | Uncertain significance (Nov 23, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FBXO33 | protein_coding | protein_coding | ENST00000298097 | 4 | 34832 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.994 | 0.00583 | 125732 | 0 | 5 | 125737 | 0.0000199 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.891 | 237 | 279 | 0.850 | 0.0000134 | 3555 |
Missense in Polyphen | 33 | 64.675 | 0.51024 | 789 | ||
Synonymous | -1.45 | 134 | 114 | 1.17 | 0.00000546 | 1182 |
Loss of Function | 3.90 | 1 | 19.7 | 0.0508 | 0.00000121 | 204 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.0000995 | 0.0000992 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000369 | 0.0000352 |
Middle Eastern | 0.00 | 0.00 |
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. Recognizes YBX1 (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0995
Intolerance Scores
- loftool
- 0.330
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.37
Haploinsufficiency Scores
- pHI
- 0.569
- hipred
- Y
- hipred_score
- 0.662
- ghis
- 0.554
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.745
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fbxo33
- Phenotype
- growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
- Cellular component
- SCF ubiquitin ligase complex
- Molecular function
- protein binding