FBXO24

F-box protein 24, the group of F-boxes other

Basic information

Region (hg38): 7:100583982-100601117

Links

ENSG00000106336 ∙ NCBI:26261 ∙ OMIM:609097 ∙ HGNC:13595 ∙ Uniprot:O75426 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBXO24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO24 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			46	1		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			8	2		10
Total	0	0	54	3	0

Variants in FBXO24

This is a list of pathogenic ClinVar variants found in the FBXO24 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-100585947-G-A		not specified	Uncertain significance (Feb 04, 2025)
7-100585986-C-T		not specified	Uncertain significance (Aug 02, 2021)
7-100586016-G-A		not specified	Uncertain significance (Sep 08, 2024)
7-100586027-G-C		not specified	Uncertain significance (Jan 18, 2022)
7-100586030-C-T		not specified	Uncertain significance (Feb 14, 2023)
7-100586049-C-T		not specified	Uncertain significance (Jan 17, 2024)
7-100586079-G-A		not specified	Uncertain significance (May 17, 2023)
7-100586082-C-A		not specified	Uncertain significance (Feb 26, 2025)
7-100586642-T-A		not specified	Uncertain significance (Aug 12, 2024)
7-100586662-C-T		not specified	Uncertain significance (Aug 09, 2021)
7-100589666-G-C		not specified	Likely benign (Feb 13, 2023)
7-100589666-G-T		not specified	Uncertain significance (Sep 29, 2023)
7-100589671-G-C		not specified	Uncertain significance (Feb 23, 2023)
7-100589675-A-G		not specified	Uncertain significance (Mar 27, 2023)
7-100589702-G-A		not specified	Uncertain significance (Mar 08, 2025)
7-100589710-G-T		not specified	Uncertain significance (Dec 13, 2022)
7-100589758-T-C		not specified	Uncertain significance (Nov 10, 2024)
7-100589773-G-A		not specified	Likely benign (Jun 16, 2024)
7-100589777-G-A		not specified	Uncertain significance (Sep 14, 2023)
7-100589791-C-T		not specified	Uncertain significance (Aug 02, 2022)
7-100590005-C-T		not specified	Uncertain significance (May 26, 2024)
7-100590010-C-T		not specified	Uncertain significance (Feb 04, 2025)
7-100590060-G-T		not specified	Uncertain significance (Jun 06, 2023)
7-100590064-C-A		not specified	Uncertain significance (Aug 01, 2024)
7-100590068-C-A		not specified	Uncertain significance (May 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO24	protein_coding	protein_coding	ENST00000427939	10	17136

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000383	0.999	125712	0	36	125748	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.51	289	371	0.780	0.0000229	3970
Missense in Polyphen		24	30.777	0.7798		273
Synonymous	0.777	139	151	0.920	0.00000929	1252
Loss of Function	3.10	11	29.0	0.379	0.00000148	322

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000553	0.000550
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000218	0.000217
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000151	0.000149
Middle Eastern	0.000218	0.000217
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. {ECO:0000250}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.419
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.78

Haploinsufficiency Scores

• pHI: 0.248
• hipred: N
• hipred_score: 0.385
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.748

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo24

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;protein binding