FBXL14

F-box and leucine rich repeat protein 14, the group of F-box and leucine rich repeat proteins

Basic information

Region (hg38): 12:1565993-1594581

Links

ENSG00000171823 ∙ NCBI:144699 ∙ OMIM:609081 ∙ HGNC:28624 ∙ Uniprot:Q8N1E6 ∙ 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 FBXL14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL14 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	2
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	1

Variants in FBXL14

This is a list of pathogenic ClinVar variants found in the FBXL14 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-1592914-C-T		not specified	Uncertain significance (Jun 10, 2022)
12-1592922-C-T		not specified	Uncertain significance (Feb 11, 2022)
12-1593045-A-G		not specified	Uncertain significance (Dec 14, 2022)
12-1593069-C-T		not specified	Uncertain significance (Aug 30, 2021)
12-1593165-G-C		not specified	Uncertain significance (Dec 27, 2023)
12-1593235-T-C		not specified	Uncertain significance (Mar 14, 2023)
12-1593304-G-A			Benign (Apr 09, 2018)
12-1593384-G-C		not specified	Uncertain significance (May 30, 2024)
12-1593404-C-A		not specified	Uncertain significance (Jun 22, 2023)
12-1593463-G-C		not specified	Uncertain significance (May 29, 2024)
12-1593620-C-G		not specified	Uncertain significance (May 27, 2022)
12-1593686-G-A			Likely benign (Jan 01, 2023)
12-1593796-T-C		not specified	Uncertain significance (Mar 30, 2024)
12-1593907-G-C		not specified	Uncertain significance (Aug 10, 2021)
12-1593927-C-T		not specified	Uncertain significance (Dec 01, 2022)
12-1593988-G-A		not specified	Uncertain significance (Aug 21, 2023)
12-1593988-G-T		not specified	Uncertain significance (Oct 02, 2023)
12-1593993-T-C		not specified	Uncertain significance (May 30, 2024)
12-1594015-C-G		not specified	Uncertain significance (Nov 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL14	protein_coding	protein_coding	ENST00000339235	2	28173

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.825	0.174	107747	0	1	107748	0.00000464

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.95	119	250	0.476	0.0000124	2682
Missense in Polyphen		23	83.135	0.27666		961
Synonymous	-3.00	152	112	1.36	0.00000541	913
Loss of Function	2.66	1	10.1	0.0988	4.42e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000457	0.0000457
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate-recognition component of some SCF (SKP1-CUL1- F-box protein)-type E3 ubiquitin-protein ligase complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1. {ECO:0000269|PubMed:19955572}.
• 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: 0.113

Intolerance Scores

• loftool: 0.0393
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.59

Haploinsufficiency Scores

• pHI: 0.121
• hipred: Y
• hipred_score: 0.514
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.419

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl14

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: cytoplasm;cytosol;SCF ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;protein binding