FBXW10B

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

Basic information

Region (hg38): 17:15565483-15619704

Previous symbols: [ "FBXW10P1", "CDRT1" ]

Links

ENSG00000241322 ∙ NCBI:374286 ∙ OMIM:604596 ∙ HGNC:14379 ∙ Uniprot:O95170 ∙ 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 FBXW10B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXW10B 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			5	1	1	7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	5	1	1

Variants in FBXW10B

This is a list of pathogenic ClinVar variants found in the FBXW10B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-15593413-T-G			Benign (Jul 21, 2018)
17-15594791-C-T		not specified	Uncertain significance (Sep 01, 2021)
17-15594897-GAAAAGATA-G			Benign (Jul 31, 2018)
17-15613677-G-C		not specified	Uncertain significance (Sep 15, 2021)
17-15615746-G-A		not specified	Likely benign (Sep 01, 2021)
17-15619077-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-15619141-C-G		not specified	Uncertain significance (Jul 27, 2021)
17-15619434-G-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXW10B	protein_coding	protein_coding	ENST00000395906	12	54029

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.98e-14	0.531	125064	2	682	125748	0.00272

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.657	373	410	0.909	0.0000223	4930
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00603	0.00598
Ashkenazi Jewish	0.00186	0.00159
East Asian	0.000662	0.000653
Finnish	0.00171	0.00171
European (Non-Finnish)	0.00311	0.00309
Middle Eastern	0.000662	0.000653
South Asian	0.00461	0.00455
Other	0.00230	0.00228

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.932
• rvis_EVS: 0.85
• rvis_percentile_EVS: 88.48

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0397

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxw10

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function