FBXO43

F-box protein 43, the group of F-boxes other

Basic information

Region (hg38): 8:100133351-100145817

Links

ENSG00000156509 ∙ NCBI:286151 ∙ OMIM:609110 ∙ HGNC:28521 ∙ Uniprot:Q4G163 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• spermatogenic failure 64 (Limited), mode of inheritance: Unknown
• oocyte maturation defect 12 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 64; Oocyte maturation defect 12	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	30878252; 34052850; 34595750

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBXO43 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO43 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				4		4
missense			37	2	1	40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	6	1

Variants in FBXO43

This is a list of pathogenic ClinVar variants found in the FBXO43 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-100133821-C-T		not specified	Uncertain significance (Apr 08, 2022)
8-100133888-A-C		not specified	Uncertain significance (May 09, 2024)
8-100133924-C-T		not specified	Uncertain significance (Dec 04, 2024)
8-100133938-C-T		Spermatogenic failure 64	Pathogenic (Jan 06, 2022)
8-100133950-C-T		not specified	Uncertain significance (Sep 23, 2023)
8-100133954-T-C		not specified	Uncertain significance (Dec 11, 2024)
8-100133999-G-C		not specified	Uncertain significance (Dec 10, 2024)
8-100134235-A-G		not specified	Uncertain significance (Nov 21, 2024)
8-100134292-G-A		Oocyte maturation defect 12 • Spermatogenic failure 64	Pathogenic (Apr 10, 2023)
8-100134313-G-A		not specified	Uncertain significance (Jun 26, 2024)
8-100134330-C-T			Benign (Jun 01, 2024)
8-100134346-C-T		not specified	Uncertain significance (Mar 29, 2024)
8-100134364-C-T		not specified	Uncertain significance (Aug 19, 2023)
8-100137646-A-T		not specified	Uncertain significance (Oct 12, 2021)
8-100140685-G-C		not specified	Uncertain significance (Mar 20, 2023)
8-100140700-G-A			Likely benign (Sep 01, 2023)
8-100140700-G-C			Likely benign (Jul 01, 2023)
8-100140744-T-C		not specified	Uncertain significance (Sep 12, 2023)
8-100140756-C-CTGTTAAGA		Oocyte maturation defect 12	Pathogenic (Apr 10, 2023)
8-100140818-T-C		not specified	Uncertain significance (Aug 07, 2024)
8-100140843-C-T		not specified	Likely benign (Feb 10, 2023)
8-100140866-C-G		not specified	Likely benign (Mar 25, 2024)
8-100140873-T-A		not specified	Uncertain significance (Aug 19, 2024)
8-100140884-C-A		not specified	Uncertain significance (Dec 14, 2023)
8-100140915-G-A		not specified	Uncertain significance (Dec 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO43	protein_coding	protein_coding	ENST00000428847	5	12441

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000113	0.989	124732	0	63	124795	0.000252

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.670	324	360	0.901	0.0000176	4641
Missense in Polyphen		50	79.19	0.63139		928
Synonymous	0.146	131	133	0.984	0.00000661	1351
Loss of Function	2.27	12	24.0	0.499	0.00000108	371

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000342	0.000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.000335	0.000334
Finnish	0.000511	0.000510
European (Non-Finnish)	0.000285	0.000282
Middle Eastern	0.000335	0.000334
South Asian	0.0000987	0.0000980
Other	0.000332	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (Probable). {ECO:0000305}.
• Pathway: Oocyte meiosis - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.778
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.41

Haploinsufficiency Scores

• pHI: 0.402
• hipred: Y
• hipred_score: 0.551
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.253

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo43
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype

Gene ontology

• Biological process: protein ubiquitination;negative regulation of meiotic nuclear division;meiotic cell cycle
• Cellular component: nucleus
• Molecular function: metal ion binding