FBXL18

F-box and leucine rich repeat protein 18, the group of F-box and leucine rich repeat proteins|MicroRNA protein coding host genes

Basic information

Region (hg38): 7:5431335-5513809

Links

ENSG00000155034 ∙ NCBI:80028 ∙ OMIM:609084 ∙ HGNC:21874 ∙ Uniprot:Q96ME1 ∙ 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 FBXL18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL18 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				2	1	3
missense			36	1	1	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	3	2

Variants in FBXL18

This is a list of pathogenic ClinVar variants found in the FBXL18 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-5481786-G-T		not specified	Uncertain significance (May 30, 2023)
7-5481834-C-G		not specified	Uncertain significance (Oct 12, 2022)
7-5481852-C-T		not specified	Uncertain significance (Dec 03, 2021)
7-5481906-T-C		not specified	Uncertain significance (Feb 01, 2023)
7-5491312-C-A		not specified	Uncertain significance (Aug 28, 2024)
7-5491387-G-A		not specified	Uncertain significance (Mar 15, 2024)
7-5491391-G-C		not specified	Uncertain significance (Dec 20, 2023)
7-5491438-G-C		not specified	Uncertain significance (Jun 11, 2021)
7-5491438-G-T		not specified	Uncertain significance (Nov 14, 2024)
7-5500585-A-G		not specified	Uncertain significance (Mar 01, 2023)
7-5500614-T-C			Benign (May 08, 2018)
7-5500659-G-A		not specified	Uncertain significance (Dec 02, 2022)
7-5500664-G-C		not specified	Uncertain significance (Jun 09, 2022)
7-5500699-C-A		not specified	Uncertain significance (Aug 19, 2021)
7-5500919-C-T			Benign (May 08, 2018)
7-5500923-C-A		not specified	Uncertain significance (Dec 11, 2023)
7-5500955-C-A		not specified	Uncertain significance (Jan 24, 2024)
7-5501063-G-A			Likely benign (Aug 01, 2022)
7-5501085-T-C		not specified	Uncertain significance (Jul 26, 2024)
7-5501124-C-G		not specified	Uncertain significance (Feb 10, 2022)
7-5501156-G-C		not specified	Uncertain significance (Jun 11, 2021)
7-5501165-G-T		not specified	Uncertain significance (May 31, 2023)
7-5501172-G-A		not specified	Uncertain significance (Dec 28, 2023)
7-5501178-C-A		not specified	Uncertain significance (Dec 17, 2023)
7-5501195-G-T			Likely benign (Aug 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL18	protein_coding	protein_coding	ENST00000382368	5	82464

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000154	0.970	124780	0	33	124813	0.000132

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	369	480	0.769	0.0000339	4563
Missense in Polyphen		123	193.86	0.63449		1939
Synonymous	-0.138	245	242	1.01	0.0000195	1539
Loss of Function	1.94	9	17.9	0.504	7.63e-7	201

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000275	0.000274
Ashkenazi Jewish	0.00	0.00
East Asian	0.000229	0.000222
Finnish	0.00	0.00
European (Non-Finnish)	0.000187	0.000177
Middle Eastern	0.000229	0.000222
South Asian	0.0000658	0.0000654
Other	0.00	0.00

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;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;G2/M Transition;Mitotic G2-G2/M phases;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.560
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.49

Haploinsufficiency Scores

• pHI: 0.206
• hipred: N
• hipred_score: 0.319
• ghis: 0.627

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.921

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl18

Zebrafish Information Network

• Gene name: fbxl18
• Affected structure: neural tube
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: G2/M transition of mitotic cell cycle;protein polyubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;post-translational protein modification;regulation of cell cycle
• Cellular component: nucleus;cytosol;SCF ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;ubiquitin protein ligase activity