FBXL7
Basic information
Region (hg38): 5:15500179-15939795
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 FBXL7 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 | 22 | 23 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 22 | 1 | 0 |
Variants in FBXL7
This is a list of pathogenic ClinVar variants found in the FBXL7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-15616031-A-G | not specified | Uncertain significance (Sep 14, 2022) | ||
5-15616045-G-T | not specified | Uncertain significance (Nov 29, 2021) | ||
5-15927947-C-T | not specified | Uncertain significance (Aug 02, 2023) | ||
5-15927980-C-G | not specified | Uncertain significance (Jan 31, 2024) | ||
5-15927980-C-T | not specified | Uncertain significance (Apr 28, 2022) | ||
5-15928034-C-G | not specified | Uncertain significance (Mar 28, 2024) | ||
5-15928045-C-T | not specified | Uncertain significance (Aug 03, 2022) | ||
5-15928187-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
5-15928207-T-C | not specified | Uncertain significance (Feb 27, 2023) | ||
5-15928323-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
5-15928381-A-G | not specified | Uncertain significance (Jan 09, 2024) | ||
5-15936474-G-A | not specified | Uncertain significance (Oct 25, 2023) | ||
5-15936488-G-A | not specified | Uncertain significance (Jan 11, 2023) | ||
5-15936553-C-A | not specified | Uncertain significance (May 09, 2023) | ||
5-15936598-C-G | not specified | Uncertain significance (Dec 13, 2022) | ||
5-15936668-G-A | not specified | Likely benign (Apr 22, 2022) | ||
5-15936705-G-A | not specified | Uncertain significance (Jan 24, 2024) | ||
5-15936714-G-A | not specified | Uncertain significance (Apr 25, 2022) | ||
5-15936737-C-T | not specified | Uncertain significance (Sep 29, 2022) | ||
5-15936791-G-A | not specified | Uncertain significance (Jan 25, 2023) | ||
5-15936795-G-A | not specified | Uncertain significance (Sep 06, 2022) | ||
5-15936816-G-A | not specified | Uncertain significance (Mar 31, 2023) | ||
5-15936819-A-T | not specified | Uncertain significance (Jun 30, 2023) | ||
5-15936938-G-A | not specified | Uncertain significance (Feb 21, 2024) | ||
5-15937055-G-A | not specified | Uncertain significance (May 24, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FBXL7 | protein_coding | protein_coding | ENST00000504595 | 4 | 439596 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.315 | 0.684 | 124724 | 0 | 5 | 124729 | 0.0000200 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.13 | 232 | 343 | 0.676 | 0.0000246 | 3132 |
Missense in Polyphen | 65 | 135.63 | 0.47924 | 1175 | ||
Synonymous | 0.222 | 158 | 162 | 0.978 | 0.0000126 | 1041 |
Loss of Function | 2.94 | 4 | 17.1 | 0.234 | 9.01e-7 | 177 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000587 | 0.0000587 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000467 | 0.0000464 |
European (Non-Finnish) | 0.00000885 | 0.00000884 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000335 | 0.0000327 |
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 AURKA during mitosis, causing mitotic arrest. {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;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;G2/M Transition;Mitotic G2-G2/M phases;Cell Cycle;Cell Cycle, Mitotic
(Consensus)
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.247
- rvis_EVS
- -0.67
- rvis_percentile_EVS
- 15.76
Haploinsufficiency Scores
- pHI
- 0.542
- hipred
- Y
- hipred_score
- 0.853
- ghis
- 0.611
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.307
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fbxl7
- Phenotype
Gene ontology
- Biological process
- G2/M transition of mitotic cell cycle;protein polyubiquitination;mitotic cell cycle;ubiquitin-dependent protein catabolic process;cell population proliferation;SCF complex assembly;negative regulation of G2/M transition of mitotic cell cycle;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;post-translational protein modification;cell division
- Cellular component
- ubiquitin ligase complex;centrosome;cytosol;SCF ubiquitin ligase complex
- Molecular function
- ubiquitin-protein transferase activity