FBXL8

F-box and leucine rich repeat protein 8, the group of F-box and leucine rich repeat proteins

Basic information

Region (hg38): 16:67159932-67164570

Links

ENSG00000135722 ∙ NCBI:55336 ∙ OMIM:609077 ∙ HGNC:17875 ∙ Uniprot:Q96CD0 ∙ 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 FBXL8 gene.

• not_specified (60 variants)
• Cataract_5_multiple_types (10 variants)
• not_provided (3 variants)
• Cataract (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018378.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1		1	2
missense			60	2	5	67
nonsense						0
start loss						0
frameshift				1		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	3	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL8	protein_coding	protein_coding	ENST00000258200	2	4640

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.92e-9	0.0294	121333	81	3080	124494	0.0128

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.196	196	204	0.961	0.0000103	2270
Missense in Polyphen		22	29.253	0.75207		294
Synonymous	1.94	73	97.4	0.749	0.00000513	863
Loss of Function	-1.09	11	7.73	1.42	3.35e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0384	0.0383
Ashkenazi Jewish	0.000104	0.000100
East Asian	0.0643	0.0621
Finnish	0.00490	0.00386
European (Non-Finnish)	0.000426	0.000401
Middle Eastern	0.0643	0.0621
South Asian	0.0220	0.0209
Other	0.00986	0.00927

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. {ECO:0000250}.
• 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: 0.103

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.372
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.361

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl8

Gene ontology

• Biological process: protein polyubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;post-translational protein modification
• Cellular component: cytosol;SCF ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;protein binding;ubiquitin protein ligase activity