FBXL13

F-box and leucine rich repeat protein 13, the group of Cilia and flagella associated|Dynein regulatory complex|F-box and leucine rich repeat proteins

Basic information

Region (hg38): 7:102811189-103074839

Links

ENSG00000161040 ∙ NCBI:222235 ∙ OMIM:609080 ∙ HGNC:21658 ∙ Uniprot:Q8NEE6 ∙ 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 FBXL13 gene.

• Inborn genetic diseases (47 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL13 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			29	5		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			13			13
Total	0	0	42	5	0

Variants in FBXL13

This is a list of pathogenic ClinVar variants found in the FBXL13 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-102813346-G-A		not specified	Likely benign (May 24, 2023)
7-102813419-T-C		not specified	Uncertain significance (Mar 02, 2023)
7-102813460-A-T		not specified	Uncertain significance (Apr 04, 2024)
7-102813500-G-T		not specified	Uncertain significance (Sep 14, 2022)
7-102822076-C-T		not specified	Uncertain significance (Jan 10, 2023)
7-102822175-G-A		not specified	Uncertain significance (Sep 14, 2022)
7-102822180-C-T		not specified	Uncertain significance (Oct 26, 2022)
7-102854815-C-G		not specified	Likely benign (Mar 01, 2023)
7-102854833-T-C		not specified	Uncertain significance (Oct 26, 2022)
7-102854839-G-A		not specified	Uncertain significance (Aug 08, 2023)
7-102854851-C-T		not specified	Uncertain significance (Feb 12, 2024)
7-102877504-A-C		not specified	Uncertain significance (Feb 15, 2023)
7-102877523-C-T		not specified	Uncertain significance (Oct 25, 2023)
7-102877564-C-T		not specified	Uncertain significance (Mar 08, 2024)
7-102878356-C-T		not specified	Uncertain significance (May 18, 2023)
7-102878421-A-G		not specified	Uncertain significance (Oct 26, 2022)
7-102878422-G-T		not specified	Uncertain significance (Oct 26, 2021)
7-102883464-T-C		not specified	Uncertain significance (May 10, 2023)
7-102883465-T-C		not specified	Uncertain significance (Feb 22, 2023)
7-102883467-C-T		not specified	Uncertain significance (Oct 03, 2022)
7-102884230-G-A		not specified	Uncertain significance (Dec 03, 2021)
7-102884272-G-T		not specified	Uncertain significance (Feb 21, 2024)
7-102884299-C-T		not specified	Uncertain significance (Jun 17, 2024)
7-102913214-G-T		not specified	Uncertain significance (Aug 12, 2021)
7-102926299-T-G		not specified	Uncertain significance (Jun 11, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL13	protein_coding	protein_coding	ENST00000313221	18	261979

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.09e-12	0.837	125630	0	118	125748	0.000469

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.548	348	378	0.921	0.0000192	4830
Missense in Polyphen		70	77.863	0.89902		1113
Synonymous	1.38	113	133	0.848	0.00000648	1338
Loss of Function	1.84	24	35.9	0.668	0.00000187	476

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00185	0.00185
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00131	0.00131
Finnish	0.000185	0.0000924
European (Non-Finnish)	0.000310	0.000308
Middle Eastern	0.00131	0.00131
South Asian	0.000243	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Substrate- recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. {ECO:0000250, ECO:0000250|UniProtKB:A8JHD7}.
• 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: 0.0885

Intolerance Scores

• loftool: 0.995
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.61

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0944

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl13

Gene ontology

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