FBXW5

F-box and WD repeat domain containing 5, the group of F-box and WD repeat domain containing|WD repeat domain containing

Basic information

Region (hg38): 9:136940435-136944738

Links

ENSG00000159069 ∙ NCBI:54461 ∙ OMIM:609072 ∙ HGNC:13613 ∙ Uniprot:Q969U6 ∙ 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 FBXW5 gene.

• not_specified (151 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXW5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018998.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	3	4
missense			146	4		150
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	146	5	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXW5	protein_coding	protein_coding	ENST00000325285	8	4262

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.28e-16	0.00423	125499	0	81	125580	0.000323

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.90	506	399	1.27	0.0000295	3627
Missense in Polyphen		200	167.53	1.1938		1609
Synonymous	-4.72	267	185	1.44	0.0000151	1156
Loss of Function	-0.346	23	21.3	1.08	9.17e-7	225

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000423	0.000418
Ashkenazi Jewish	0.000105	0.0000993
East Asian	0.000397	0.000381
Finnish	0.0000471	0.0000462
European (Non-Finnish)	0.000413	0.000397
Middle Eastern	0.000397	0.000381
South Asian	0.000496	0.000490
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate recognition component of both SCF (SKP1-CUL1- F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes required to allow mitotic progression. Substrate-specific adapter of the DCX(FBXW5) E3 ubiquitin-protein ligase complex which mediates the polyubiquitination and subsequent degradation of TSC2. May also act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway. {ECO:0000269|PubMed:18381890, ECO:0000269|PubMed:19232515, ECO:0000269|PubMed:21725316}.
• Pathway: Regulation of toll-like receptor signaling 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;Class I MHC mediated antigen processing & presentation;IL1;Neddylation;Protein folding (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.759
• rvis_EVS: -1.28
• rvis_percentile_EVS: 5.19

Haploinsufficiency Scores

• pHI: 0.141
• hipred: Y
• hipred_score: 0.605
• ghis: 0.505

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.980

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxw5

Gene ontology

• Biological process: protein polyubiquitination;regulation of mitotic nuclear division;regulation of centrosome duplication;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;proteasome-mediated ubiquitin-dependent protein catabolic process;post-translational protein modification
• Cellular component: cytoplasm;cytosol;SCF ubiquitin ligase complex;Cul4-RING E3 ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;protein binding;protein kinase binding