FBXO30
Basic information
Region (hg38): 6:145793502-145814795
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 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 | |||||
missense | 19 | 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) | ||
6-145800200-C-T | not specified | Uncertain significance (Apr 30, 2024) | ||
6-145800238-G-C | not specified | Uncertain significance (Jun 22, 2021) | ||
6-145800276-T-G | not specified | Uncertain significance (Mar 18, 2024) | ||
6-145800302-C-T | not specified | Uncertain significance (Dec 31, 2023) | ||
6-145804608-G-T | not specified | Uncertain significance (Oct 05, 2022) | ||
6-145804920-A-C | not specified | Uncertain significance (Dec 13, 2023) | ||
6-145804978-C-G | not specified | Uncertain significance (Jul 20, 2021) | ||
6-145805040-C-T | not specified | Uncertain significance (Jun 01, 2023) | ||
6-145805045-A-G | not specified | Uncertain significance (Sep 20, 2023) | ||
6-145805054-A-G | not specified | Uncertain significance (Mar 26, 2024) | ||
6-145805109-A-N | not specified | Uncertain significance (Jan 18, 2024) | ||
6-145805322-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
6-145805346-T-C | not specified | Uncertain significance (Jan 04, 2024) | ||
6-145805366-G-C | not specified | Uncertain significance (Apr 19, 2024) | ||
6-145805375-C-A | not specified | Uncertain significance (Mar 20, 2023) | ||
6-145805470-T-C | Likely benign (Nov 01, 2022) | |||
6-145805484-T-C | not specified | Uncertain significance (Jan 05, 2022) | ||
6-145805531-A-G | not specified | Uncertain significance (Jan 02, 2024) | ||
6-145805621-T-C | not specified | Uncertain significance (Jun 17, 2024) | ||
6-145805632-A-C | not specified | Uncertain significance (Jun 18, 2024) | ||
6-145805647-A-C | not specified | Uncertain significance (Mar 29, 2022) | ||
6-145805651-T-C | not specified | Uncertain significance (Dec 26, 2023) | ||
6-145805792-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
6-145805856-G-C | not specified | Uncertain significance (Dec 28, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FBXO30 | protein_coding | protein_coding | ENST00000237281 | 2 | 21252 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.358 | 0.642 | 125725 | 0 | 14 | 125739 | 0.0000557 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.41 | 314 | 393 | 0.800 | 0.0000202 | 4904 |
Missense in Polyphen | 79 | 146.45 | 0.53945 | 1819 | ||
Synonymous | -0.888 | 152 | 139 | 1.10 | 0.00000685 | 1438 |
Loss of Function | 3.68 | 6 | 26.4 | 0.227 | 0.00000166 | 335 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000580 | 0.0000580 |
Ashkenazi Jewish | 0.000199 | 0.000198 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000709 | 0.0000703 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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