FBXO33

F-box protein 33, the group of F-boxes other

Basic information

Region (hg38): 14:39397684-39432466

Links

ENSG00000165355NCBI:254170OMIM:609103HGNC:19833Uniprot:Q7Z6M2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBXO33 gene.

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
clinvar
2
clinvar
1
clinvar
52
nonsense
0
start loss
0
frameshift
0
inframe indel
1
clinvar
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)3514005
14-39399580-C-T not specified Uncertain significance (Oct 14, 2023)3093683
14-39399590-C-T not specified Uncertain significance (May 14, 2024)3278150
14-39399596-C-G not specified Uncertain significance (Feb 12, 2025)3849467
14-39399634-A-G not specified Uncertain significance (Aug 15, 2023)2613154
14-39399635-C-A not specified Uncertain significance (Jul 05, 2022)2292190
14-39399643-A-G not specified Uncertain significance (Jun 29, 2023)2608823
14-39399647-G-C not specified Uncertain significance (Dec 09, 2024)3514004
14-39399660-A-T not specified Uncertain significance (Jul 12, 2023)2611312
14-39399676-G-C not specified Uncertain significance (Jan 10, 2023)2463427
14-39399687-T-G not specified Uncertain significance (May 15, 2024)3278151
14-39399688-T-C not specified Uncertain significance (Nov 12, 2024)3514010
14-39399716-C-T not specified Uncertain significance (Aug 30, 2022)3093681
14-39399766-T-C not specified Uncertain significance (Nov 07, 2022)2323146
14-39401263-A-G not specified Uncertain significance (Jan 02, 2024)3093680
14-39401291-T-G not specified Uncertain significance (Apr 01, 2024)3278153
14-39401314-T-G not specified Uncertain significance (Jan 05, 2022)2398714
14-39401365-T-C not specified Uncertain significance (Apr 17, 2024)3278152
14-39401399-A-T not specified Uncertain significance (May 13, 2024)3278143
14-39401430-C-T not specified Uncertain significance (Aug 17, 2021)2246429
14-39401460-C-A not specified Uncertain significance (Nov 22, 2023)3093679
14-39401478-C-T not specified Uncertain significance (May 30, 2024)3278145
14-39401529-T-G not specified Uncertain significance (Nov 18, 2022)2209097
14-39401544-T-C not specified Likely benign (Nov 13, 2023)3093677
14-39401565-C-T not specified Uncertain significance (Nov 23, 2021)2262249

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FBXO33protein_codingprotein_codingENST00000298097 434832
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9940.00583125732051257370.0000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8912372790.8500.00001343555
Missense in Polyphen3364.6750.51024789
Synonymous-1.451341141.170.000005461182
Loss of Function3.90119.70.05080.00000121204

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009950.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003690.0000352
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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