FBXL5

F-box and leucine rich repeat protein 5, the group of F-box and leucine rich repeat proteins

Basic information

Region (hg38): 4:15604381-15681679

Links

ENSG00000118564 ∙ NCBI:26234 ∙ OMIM:605655 ∙ HGNC:13602 ∙ Uniprot:Q9UKA1 ∙ 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 FBXL5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL5 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			34			34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	0	0

Variants in FBXL5

This is a list of pathogenic ClinVar variants found in the FBXL5 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-15605786-A-T		not specified	Uncertain significance (Mar 30, 2024)
4-15625261-T-C		not specified	Uncertain significance (Jun 07, 2024)
4-15625318-T-A		not specified	Uncertain significance (Nov 11, 2024)
4-15625360-C-A		not specified	Uncertain significance (Dec 04, 2024)
4-15625408-T-G		not specified	Uncertain significance (Aug 12, 2021)
4-15625442-C-T		not specified	Uncertain significance (Mar 07, 2025)
4-15625447-CA-C		Prostate cancer	Uncertain significance (-)
4-15625458-G-C		not specified	Uncertain significance (Dec 06, 2024)
4-15625484-A-C		not specified	Uncertain significance (Sep 27, 2024)
4-15625504-C-A		not specified	Uncertain significance (Mar 20, 2023)
4-15625532-C-T		not specified	Uncertain significance (Jan 15, 2025)
4-15625604-T-A		not specified	Uncertain significance (Aug 27, 2024)
4-15625688-C-T		not specified	Uncertain significance (Jul 09, 2024)
4-15625700-G-C		not specified	Uncertain significance (Mar 20, 2023)
4-15625725-T-C		not specified	Uncertain significance (Feb 26, 2024)
4-15625756-T-C		not specified	Uncertain significance (Jun 13, 2024)
4-15625757-C-T			Uncertain significance (Feb 08, 2023)
4-15625766-A-G		not specified	Uncertain significance (Oct 16, 2024)
4-15625811-A-T		not specified	Uncertain significance (Mar 30, 2022)
4-15625838-A-G		not specified	Uncertain significance (Jul 30, 2024)
4-15625853-C-A		not specified	Uncertain significance (Feb 13, 2025)
4-15625871-G-C		not specified	Uncertain significance (Jul 16, 2024)
4-15627956-C-T		not specified	Uncertain significance (Nov 09, 2021)
4-15627982-C-T		not specified	Uncertain significance (Nov 17, 2022)
4-15627983-G-A		not specified	Uncertain significance (Sep 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL5	protein_coding	protein_coding	ENST00000341285	11	77141

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00146	125714	0	14	125728	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.85	256	354	0.724	0.0000174	4567
Missense in Polyphen		67	140.41	0.47719		1849
Synonymous	-0.165	127	125	1.02	0.00000644	1261
Loss of Function	4.77	3	32.2	0.0931	0.00000151	428

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000548	0.000523
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000362	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued. {ECO:0000269|PubMed:17532294, ECO:0000269|PubMed:19762596, ECO:0000269|PubMed:19762597}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Chaperonin-mediated protein folding;Immune System;Association of TriC/CCT with target proteins during biosynthesis;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Transport of small molecules;Class I MHC mediated antigen processing & presentation;Neddylation;Protein folding;Iron uptake and transport (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.311
• rvis_EVS: -0.96
• rvis_percentile_EVS: 9.09

Haploinsufficiency Scores

• pHI: 0.154
• hipred: Y
• hipred_score: 0.831
• ghis: 0.606

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.773

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl5
• Phenotype: immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary 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); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); liver/biliary system phenotype; embryo phenotype; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;cellular iron ion homeostasis;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;post-translational protein modification;iron ion homeostasis;positive regulation of cellular protein catabolic process
• Cellular component: ubiquitin ligase complex;cytosol;SCF ubiquitin ligase complex;perinuclear region of cytoplasm
• Molecular function: ubiquitin-protein transferase activity;iron ion binding;protein binding