FBXL6

F-box and leucine rich repeat protein 6, the group of F-box and leucine rich repeat proteins

Basic information

Region (hg38): 8:144355431-144359376

Links

ENSG00000182325 ∙ NCBI:26233 ∙ OMIM:609076 ∙ HGNC:13603 ∙ Uniprot:Q8N531 ∙ 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 FBXL6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL6 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			48	5		53
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	6	0

Variants in FBXL6

This is a list of pathogenic ClinVar variants found in the FBXL6 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144355538-G-C		not specified	Uncertain significance (Dec 07, 2021)
8-144355593-G-A		not specified	Uncertain significance (Sep 16, 2021)
8-144355595-T-C		not specified	Uncertain significance (Sep 16, 2021)
8-144355598-G-A		not specified	Uncertain significance (Jun 14, 2022)
8-144355635-C-T		not specified	Uncertain significance (Jun 22, 2023)
8-144355646-T-C		not specified	Uncertain significance (Oct 16, 2023)
8-144355652-A-C		not specified	Uncertain significance (Feb 28, 2024)
8-144355659-G-A		not specified	Uncertain significance (Mar 28, 2024)
8-144355987-C-T		not specified	Uncertain significance (Jan 26, 2022)
8-144355989-C-T		not specified	Uncertain significance (Jun 21, 2023)
8-144355990-G-A		not specified	Uncertain significance (Jul 14, 2021)
8-144356044-T-C		not specified	Likely benign (Aug 10, 2021)
8-144356095-C-T		not specified	Uncertain significance (Mar 27, 2023)
8-144356097-C-T		not specified	Uncertain significance (Sep 07, 2022)
8-144356148-C-T		not specified	Uncertain significance (Sep 22, 2022)
8-144356153-C-G		not specified	Uncertain significance (Apr 14, 2023)
8-144356173-G-A		not specified	Uncertain significance (Jun 29, 2022)
8-144356181-G-A		not specified	Likely benign (Dec 03, 2021)
8-144356205-T-C		not specified	Uncertain significance (Jan 19, 2022)
8-144356303-G-A		not specified	Uncertain significance (Aug 09, 2021)
8-144356339-G-A		not specified	Uncertain significance (Oct 14, 2021)
8-144356341-G-A		not specified	Uncertain significance (May 25, 2022)
8-144356350-C-T		not specified	Uncertain significance (Jul 25, 2023)
8-144356369-G-C		not specified	Uncertain significance (Mar 31, 2024)
8-144356380-C-T		not specified	Uncertain significance (May 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL6	protein_coding	protein_coding	ENST00000331890	9	3946

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.22e-9	0.579	125566	0	128	125694	0.000509

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.08	329	278	1.18	0.0000165	3339
Missense in Polyphen		108	93.06	1.1605		1106
Synonymous	-3.70	178	125	1.42	0.00000717	1224
Loss of Function	1.19	16	22.0	0.727	0.00000121	238

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000571	0.000514
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.00218	0.00218
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000534	0.000528
Middle Eastern	0.00218	0.00218
South Asian	0.000266	0.000261
Other	0.000655	0.000652

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: 0.101

Intolerance Scores

• loftool: 0.876
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.53

Haploinsufficiency Scores

• pHI: 0.0924
• hipred: N
• hipred_score: 0.394
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.893

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl6

Gene ontology

• Biological process: proteolysis;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
• Cellular component: SCF ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;ubiquitin protein ligase activity