FBXO30

F-box protein 30, the group of F-boxes other|Zinc fingers TRAF-type

Basic information

Region (hg38): 6:145793502-145814795

Links

ENSG00000118496NCBI:84085OMIM:609101HGNC:15600Uniprot:Q8TB52AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBXO30 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO30 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
1
clinvar
1
missense
19
clinvar
19
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 19 1 0

Variants in FBXO30

This is a list of pathogenic ClinVar variants found in the FBXO30 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-145800189-T-C not specified Uncertain significance (Mar 01, 2023)3093657
6-145800200-C-T not specified Uncertain significance (Apr 30, 2024)3278130
6-145800238-G-C not specified Uncertain significance (Jun 22, 2021)2206401
6-145800276-T-G not specified Uncertain significance (Mar 18, 2024)3278126
6-145800302-C-T not specified Uncertain significance (Dec 31, 2023)3093656
6-145804608-G-T not specified Uncertain significance (Oct 05, 2022)2317000
6-145804920-A-C not specified Uncertain significance (Dec 13, 2023)3093655
6-145804978-C-G not specified Uncertain significance (Jul 20, 2021)2379037
6-145805040-C-T not specified Uncertain significance (Jun 01, 2023)2555144
6-145805045-A-G not specified Uncertain significance (Sep 20, 2023)3093654
6-145805054-A-G not specified Uncertain significance (Mar 26, 2024)3278127
6-145805109-A-N not specified Uncertain significance (Jan 18, 2024)2687849
6-145805322-C-T not specified Uncertain significance (Mar 25, 2024)3278129
6-145805346-T-C not specified Uncertain significance (Jan 04, 2024)3093653
6-145805366-G-C not specified Uncertain significance (Apr 19, 2024)3278128
6-145805375-C-A not specified Uncertain significance (Mar 20, 2023)2515846
6-145805470-T-C Likely benign (Nov 01, 2022)2656967
6-145805484-T-C not specified Uncertain significance (Jan 05, 2022)3093661
6-145805531-A-G not specified Uncertain significance (Jan 02, 2024)2374399
6-145805621-T-C not specified Uncertain significance (Jun 17, 2024)3278131
6-145805632-A-C not specified Uncertain significance (Jun 18, 2024)3278132
6-145805647-A-C not specified Uncertain significance (Mar 29, 2022)2280241
6-145805651-T-C not specified Uncertain significance (Dec 26, 2023)3093660
6-145805792-C-T not specified Uncertain significance (Dec 20, 2023)3093659
6-145805856-G-C not specified Uncertain significance (Dec 28, 2022)2339996

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FBXO30protein_codingprotein_codingENST00000237281 221252
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3580.6421257250141257390.0000557
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.413143930.8000.00002024904
Missense in Polyphen79146.450.539451819
Synonymous-0.8881521391.100.000006851438
Loss of Function3.68626.40.2270.00000166335

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005800.0000580
Ashkenazi Jewish0.0001990.000198
East Asian0.000.00
Finnish0.00004620.0000462
European (Non-Finnish)0.00007090.0000703
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation. {ECO:0000250}.;
Pathway
Post-translational protein modification;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Neddylation (Consensus)

Recessive Scores

pRec
0.105

Intolerance Scores

loftool
0.301
rvis_EVS
-0.27
rvis_percentile_EVS
34.82

Haploinsufficiency Scores

pHI
0.365
hipred
Y
hipred_score
0.853
ghis
0.518

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.822

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fbxo30
Phenotype

Gene ontology

Biological process
protein polyubiquitination;post-translational protein modification
Cellular component
cytosol
Molecular function
ubiquitin-protein transferase activity;zinc ion binding;ubiquitin protein ligase activity