FBXO21
Basic information
Region (hg38): 12:117141990-117190470
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 FBXO21 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 | 24 | 24 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 24 | 0 | 1 |
Variants in FBXO21
This is a list of pathogenic ClinVar variants found in the FBXO21 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-117146101-T-G | not specified | Uncertain significance (Jul 06, 2021) | ||
12-117155802-T-C | not specified | Uncertain significance (Jul 31, 2023) | ||
12-117155827-G-C | not specified | Uncertain significance (Jun 21, 2023) | ||
12-117155913-G-T | not specified | Uncertain significance (May 06, 2024) | ||
12-117158024-C-T | not specified | Uncertain significance (Jan 10, 2022) | ||
12-117166927-C-A | not specified | Uncertain significance (Dec 16, 2022) | ||
12-117166952-T-C | not specified | Uncertain significance (Jun 29, 2022) | ||
12-117167001-C-T | not specified | Uncertain significance (May 14, 2024) | ||
12-117172516-T-C | not specified | Uncertain significance (Jan 22, 2024) | ||
12-117172555-G-C | not specified | Uncertain significance (Feb 22, 2023) | ||
12-117174230-T-G | not specified | Uncertain significance (Jan 04, 2024) | ||
12-117174307-C-G | not specified | Uncertain significance (Sep 28, 2022) | ||
12-117174669-T-C | not specified | Uncertain significance (May 23, 2023) | ||
12-117174717-C-T | not specified | Uncertain significance (Jun 17, 2024) | ||
12-117174722-C-A | not specified | Uncertain significance (May 10, 2024) | ||
12-117186489-T-C | not specified | Uncertain significance (Dec 03, 2021) | ||
12-117189318-T-C | not specified | Uncertain significance (Jun 17, 2024) | ||
12-117190225-G-C | not specified | Uncertain significance (Oct 06, 2022) | ||
12-117190313-C-G | Benign (Jul 31, 2018) | |||
12-117190361-G-T | not specified | Uncertain significance (Aug 17, 2021) | ||
12-117190362-T-C | not specified | Uncertain significance (Feb 03, 2022) | ||
12-117190371-C-A | not specified | Uncertain significance (Dec 28, 2022) | ||
12-117190378-G-A | not specified | Uncertain significance (Dec 21, 2023) | ||
12-117190413-G-A | not specified | Uncertain significance (Aug 02, 2022) | ||
12-117190416-G-A | not specified | Uncertain significance (Dec 22, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FBXO21 | protein_coding | protein_coding | ENST00000330622 | 12 | 47191 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.975 | 0.0246 | 125739 | 0 | 9 | 125748 | 0.0000358 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.72 | 213 | 358 | 0.595 | 0.0000203 | 4093 |
Missense in Polyphen | 32 | 88.152 | 0.36301 | 1007 | ||
Synonymous | 1.32 | 127 | 147 | 0.861 | 0.00000939 | 1156 |
Loss of Function | 4.56 | 5 | 33.4 | 0.150 | 0.00000162 | 398 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000292 | 0.0000292 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000352 | 0.0000352 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000982 | 0.0000980 |
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. {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
- 0.111
Intolerance Scores
- loftool
- 0.162
- rvis_EVS
- -0.78
- rvis_percentile_EVS
- 12.77
Haploinsufficiency Scores
- pHI
- 0.287
- hipred
- Y
- hipred_score
- 0.673
- ghis
- 0.639
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.874
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fbxo21
- Phenotype
Gene ontology
- Biological process
- protein polyubiquitination;ubiquitin-dependent protein catabolic process;post-translational protein modification
- Cellular component
- ubiquitin ligase complex;cytosol
- Molecular function
- DNA binding;ubiquitin-protein transferase activity