FBXO8

F-box protein 8, the group of F-boxes other|Sec7 family

Basic information

Region (hg38): 4:174236658-174283667

Links

ENSG00000164117 ∙ NCBI:26269 ∙ OMIM:605649 ∙ HGNC:13587 ∙ Uniprot:Q9NRD0 ∙ 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 FBXO8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO8 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					1	1
missense			6		1	7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	6	0	2

Variants in FBXO8

This is a list of pathogenic ClinVar variants found in the FBXO8 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-174237490-G-A			Benign (Dec 31, 2019)
4-174237491-C-T		not specified	Uncertain significance (Jul 26, 2024)
4-174237602-G-A			Benign (Dec 31, 2019)
4-174239006-C-T		not specified	Uncertain significance (Apr 26, 2023)
4-174239060-T-A		not specified	Uncertain significance (Feb 02, 2022)
4-174239149-C-T		not specified	Uncertain significance (Sep 01, 2021)
4-174259787-T-C			Benign (Dec 31, 2019)
4-174259805-C-G		not specified	Uncertain significance (Dec 07, 2023)
4-174262950-T-G		not specified	Uncertain significance (Jan 24, 2024)
4-174262989-G-A		not specified	Uncertain significance (Feb 07, 2023)
4-174263028-T-G		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO8	protein_coding	protein_coding	ENST00000393674	5	47607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.486	0.513	125736	0	6	125742	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.94	99	170	0.582	0.00000860	2122
Missense in Polyphen		17	57.384	0.29625		753
Synonymous	0.244	56	58.4	0.959	0.00000282	573
Loss of Function	2.82	3	14.6	0.205	7.60e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000555	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000358	0.0000352
Middle Eastern	0.0000555	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential). {ECO:0000305}.
• Pathway: Arf6 signaling events (Consensus)

Recessive Scores

• pRec: 0.144

Intolerance Scores

• loftool: 0.236
• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• pHI: 0.115
• hipred: Y
• hipred_score: 0.825
• ghis: 0.588

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.820

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo8

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;regulation of ARF protein signal transduction
• Cellular component: ubiquitin ligase complex
• Molecular function: ARF guanyl-nucleotide exchange factor activity