FBXL7

F-box and leucine rich repeat protein 7, the group of F-box and leucine rich repeat proteins|MicroRNA protein coding host genes

Basic information

Region (hg38): 5:15500179-15939795

Links

ENSG00000183580 ∙ NCBI:23194 ∙ OMIM:605656 ∙ HGNC:13604 ∙ Uniprot:Q9UJT9 ∙ 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 FBXL7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL7 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			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in FBXL7

This is a list of pathogenic ClinVar variants found in the FBXL7 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-15616031-A-G		not specified	Uncertain significance (Sep 14, 2022)
5-15616045-G-T		not specified	Uncertain significance (Nov 29, 2021)
5-15927947-C-T		not specified	Uncertain significance (Aug 02, 2023)
5-15927980-C-G		not specified	Uncertain significance (Jan 31, 2024)
5-15927980-C-T		not specified	Uncertain significance (Apr 28, 2022)
5-15928034-C-G		not specified	Uncertain significance (Mar 28, 2024)
5-15928045-C-T		not specified	Uncertain significance (Aug 03, 2022)
5-15928187-G-A		not specified	Uncertain significance (Mar 25, 2024)
5-15928207-T-C		not specified	Uncertain significance (Feb 27, 2023)
5-15928323-G-A		not specified	Uncertain significance (Sep 01, 2021)
5-15928381-A-G		not specified	Uncertain significance (Jan 09, 2024)
5-15936474-G-A		not specified	Uncertain significance (Oct 25, 2023)
5-15936488-G-A		not specified	Uncertain significance (Jan 11, 2023)
5-15936553-C-A		not specified	Uncertain significance (May 09, 2023)
5-15936598-C-G		not specified	Uncertain significance (Dec 13, 2022)
5-15936668-G-A		not specified	Likely benign (Apr 22, 2022)
5-15936705-G-A		not specified	Uncertain significance (Jan 24, 2024)
5-15936714-G-A		not specified	Uncertain significance (Apr 25, 2022)
5-15936737-C-T		not specified	Uncertain significance (Sep 29, 2022)
5-15936791-G-A		not specified	Uncertain significance (Jan 25, 2023)
5-15936795-G-A		not specified	Uncertain significance (Sep 06, 2022)
5-15936816-G-A		not specified	Uncertain significance (Mar 31, 2023)
5-15936819-A-T		not specified	Uncertain significance (Jun 30, 2023)
5-15936938-G-A		not specified	Uncertain significance (Feb 21, 2024)
5-15937055-G-A		not specified	Uncertain significance (May 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL7	protein_coding	protein_coding	ENST00000504595	4	439596

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.315	0.684	124724	0	5	124729	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.13	232	343	0.676	0.0000246	3132
Missense in Polyphen		65	135.63	0.47924		1175
Synonymous	0.222	158	162	0.978	0.0000126	1041
Loss of Function	2.94	4	17.1	0.234	9.01e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000587	0.0000587
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000467	0.0000464
European (Non-Finnish)	0.00000885	0.00000884
Middle Eastern	0.00	0.00
South Asian	0.0000335	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of AURKA during mitosis, causing mitotic arrest. {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: 0.113

Intolerance Scores

• loftool: 0.247
• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.76

Haploinsufficiency Scores

• pHI: 0.542
• hipred: Y
• hipred_score: 0.853
• ghis: 0.611

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl7

Gene ontology

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