FBXO32

F-box protein 32, the group of F-boxes other

Basic information

Region (hg38): 8:123497889-123541206

Links

ENSG00000156804

∙ NCBI:114907 ∙ OMIM:606604 ∙ HGNC:16731 ∙ Uniprot:Q969P5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

dilated cardiomyopathy (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBXO32 gene.

not_specified (30 variants)
not_provided (5 variants)
OMIM:_606604 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO32 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000058229.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	3 clinvar	4
missense			30 clinvar		1 clinvar	31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	1	4

Highest pathogenic variant AF is 6.840825e-7

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO32	protein_coding	protein_coding	ENST00000517956	9	43318

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00308	125731	0	7	125738	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	135	197	0.684	0.0000107	2345
Missense in Polyphen		54	91.597	0.58954		1025
Synonymous	0.788	70	78.9	0.887	0.00000430	641
Loss of Function	4.09	1	21.4	0.0467	0.00000109	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000876	0.0000876
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.0000546	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.0000546	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

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. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1. {ECO:0000269|PubMed:15531760}.;
Pathway: FoxO signaling pathway - Homo sapiens (human);Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling;Monoamine Transport;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;FoxO family signaling (Consensus)

Recessive Scores

pRec: 0.227

Intolerance Scores

loftool: 0.257
rvis_EVS: -0.05
rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

pHI: 0.501
hipred: Y
hipred_score: 0.774
ghis: 0.506

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.878

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Fbxo32
Phenotype: muscle phenotype;

Zebrafish Information Network

Gene name: fbxo32
Affected structure: cardiac muscle cell
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: protein polyubiquitination;response to denervation involved in regulation of muscle adaptation;protein ubiquitination;post-translational protein modification;cellular response to dexamethasone stimulus
Cellular component: nucleoplasm;cytoplasm;cytosol;SCF ubiquitin ligase complex;Z disc
Molecular function: ubiquitin-protein transferase activity;protein binding