FBXW10

F-box and WD repeat domain containing 10, the group of WD repeat domain containing|F-box and WD repeat domain containing

Basic information

Region (hg38): 17:18744026-18779349

Previous symbols: [ "C17orf1", "C17orf1A" ]

Links

ENSG00000171931

∙ NCBI:10517 ∙ OMIM:611679 ∙ HGNC:1211 ∙ Uniprot:Q5XX13 ∙ 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 FBXW10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXW10 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 clinvar		1
missense					1 clinvar	1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	1

Variants in FBXW10

This is a list of pathogenic ClinVar variants found in the FBXW10 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-18749875-G-T			Benign (Aug 09, 2017)	769431
17-18772661-G-A			Likely benign (Mar 01, 2023)	2647560

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXW10	protein_coding	protein_coding	ENST00000395665	14	35337

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.82e-27	0.00225	123763	15	1970	125748	0.00792

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.00	498	565	0.881	0.0000302	6888
Missense in Polyphen		135	155.96	0.8656		2074
Synonymous	0.0302	224	225	0.997	0.0000130	1982
Loss of Function	0.857	45	51.6	0.871	0.00000304	580

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0796	0.0778
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.0167	0.0166
Finnish	0.000141	0.000139
European (Non-Finnish)	0.00155	0.00152
Middle Eastern	0.0167	0.0166
South Asian	0.00240	0.00235
Other	0.00740	0.00736

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probable substrate-recognition component of a SCF (SKP1- CUL1-F-box protein)-type E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Overexpression is leading to degradation of CBX5 and CBX1. {ECO:0000269|PubMed:20498703}.;
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;Neddylation;Protein folding (Consensus)

Recessive Scores

pRec: 0.0851

Intolerance Scores

loftool
rvis_EVS: 1.27
rvis_percentile_EVS: 93.65

Haploinsufficiency Scores

pHI: 0.340
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0540

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Fbxw10
Phenotype

Gene ontology

Biological process: protein polyubiquitination;post-translational protein modification
Cellular component: cytosol
Molecular function: ubiquitin-protein transferase activity