FBXO7

F-box protein 7, the group of F-boxes other

Basic information

Region (hg38): 22:32474676-32498829

Links

ENSG00000100225NCBI:25793OMIM:605648HGNC:13586Uniprot:Q9Y3I1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • parkinsonian-pyramidal syndrome (Strong), mode of inheritance: AR
  • parkinsonian-pyramidal syndrome (Strong), mode of inheritance: AR
  • parkinsonian-pyramidal syndrome (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Parkinson disease 15, autosomal recessiveARNeurologicIndividuals have been described with levodopa responseNeurologic18513678; 19038853; 23318512

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBXO7 gene.

  • Parkinsonian-pyramidal_syndrome (328 variants)
  • not_provided (58 variants)
  • Inborn_genetic_diseases (53 variants)
  • FBXO7-related_disorder (6 variants)
  • not_specified (5 variants)
  • Parkinson_Disease,_Recessive (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012179.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
122
clinvar
1
clinvar
125
missense
1
clinvar
1
clinvar
118
clinvar
16
clinvar
1
clinvar
137
nonsense
10
clinvar
7
clinvar
17
start loss
4
4
frameshift
14
clinvar
5
clinvar
3
clinvar
22
splice donor/acceptor (+/-2bp)
1
clinvar
4
clinvar
1
clinvar
6
Total 30 17 124 138 2

Highest pathogenic variant AF is 0.0000960326

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FBXO7protein_codingprotein_codingENST00000266087 924156
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.79e-70.9691256870611257480.000243
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4403052841.070.00001613359
Missense in Polyphen8581.161.0473960
Synonymous0.6261051130.9250.000006451081
Loss of Function2.031425.00.5610.00000150286

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004200.000420
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0003340.000334
Middle Eastern0.00005440.0000544
South Asian0.0003280.000327
Other0.0003260.000326

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. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. {ECO:0000269|PubMed:15145941, ECO:0000269|PubMed:16510124, ECO:0000269|PubMed:23933751}.;
Disease
DISEASE: Parkinson disease 15 (PARK15) [MIM:260300]: A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia. {ECO:0000269|PubMed:18513678, ECO:0000269|PubMed:23933751}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
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
0.138

Intolerance Scores

loftool
0.893
rvis_EVS
0.09
rvis_percentile_EVS
60.57

Haploinsufficiency Scores

pHI
0.0684
hipred
Y
hipred_score
0.614
ghis
0.499

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.294

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fbxo7
Phenotype
homeostasis/metabolism phenotype; reproductive system phenotype; hematopoietic system phenotype; immune system phenotype;

Zebrafish Information Network

Gene name
fbxo7
Affected structure
post-vent region
Phenotype tag
abnormal
Phenotype quality
curled

Gene ontology

Biological process
protein polyubiquitination;autophagy of mitochondrion;ubiquitin-dependent protein catabolic process;protein targeting to mitochondrion;regulation of neuron projection development;protein ubiquitination;regulation of protein stability;regulation of locomotion;post-translational protein modification;negative regulation of lymphocyte differentiation;negative regulation of cyclin-dependent protein serine/threonine kinase activity;negative regulation of oxidative stress-induced neuron death;positive regulation of autophagy of mitochondrion;negative regulation of G1/S transition of mitotic cell cycle
Cellular component
ubiquitin ligase complex;nucleus;cytoplasm;mitochondrion;cytosol;SCF ubiquitin ligase complex;protein-containing complex;glial cytoplasmic inclusion;classical Lewy body;Lewy neurite;Lewy body core;Lewy body corona
Molecular function
ubiquitin-protein transferase activity;protein binding;protein kinase binding;ubiquitin protein ligase binding;ubiquitin binding;protein heterodimerization activity