FBXW10B

protein-coding

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

Gene summary

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Previous symbols:

FBXW10P1
CDRT1

MANE transcript

NM_006382.4

Inheritance

—

ClinVar variants

U:9B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr17:15,565,483-15,619,704

External References & Databases

Ensembl (ENSG00000241322)

Transcript & Mutation Effects

hg38 • Region Span ~54.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FBXW10B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006382.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			8 clinvar	1 clinvar		9
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	9	1	0	10

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006382.4	RefSeq	NP_006373.2	12	MANE Select
ENST00000395906.8	Ensembl	ENSP00000379242.4	12	MANE Select
NM_001282540.2	RefSeq	NP_001269469.1	12	Standard
ENST00000261644.8	Ensembl	ENSP00000261644.8	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

cellular_component

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000395906
Coding exons: 12
Length: 54029
Individuals with no LoFs: 125064
Homozygous LoFs: 2
Heterozygous LoFs: 682
Defined: 125748
p: 0.00272

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.657	373	410	0.909	0.0000223	4930
Missense (PolyPhen)		111	123.69	0.89742		1543
Synonymous	0.818	156	170	0.920	0.0000105	1418
Loss of Function	1.54	26	36.0	0.723	0.00000211	398

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0051	0.0050	notable
Latino/Admixed American	0.00098	0.00098	rare
Ashkenazi Jewish	0.0019	0.0016	notable
East Asian	0.00066	0.00065	rare
Finnish	0.0017	0.0017	notable
European (Non-Finnish)	0.0031	0.0031	notable
South Asian	0.0046	0.0046	notable
Other	0.0023	0.0023	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.932
RVIS EVS: 0.85
RVIS percentile EVS: 88.48

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0397

Gene Damage Prediction

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