FBXW9

F-box and WD repeat domain containing 9, the group of WD repeat domain containing|F-box and WD repeat domain containing

Basic information

Region (hg38): 19:12688053-12696631

Links

ENSG00000132004

∙ NCBI:84261 ∙ OMIM:609074 ∙ HGNC:28136 ∙ Uniprot:Q5XUX1 ∙ 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 FBXW9 gene.

not_specified (73 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXW9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032301.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			73 clinvar			73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXW9	protein_coding	protein_coding	ENST00000393261	10	8591

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.09e-9	0.802	125661	0	86	125747	0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.622	259	289	0.897	0.0000171	2889
Missense in Polyphen		89	107.94	0.82453		1135
Synonymous	0.654	123	133	0.928	0.00000819	985
Loss of Function	1.55	17	25.5	0.668	0.00000144	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000790	0.000774
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000492	0.000489
Finnish	0.0000928	0.0000924
European (Non-Finnish)	0.000363	0.000360
Middle Eastern	0.000492	0.000489
South Asian	0.000328	0.000327
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. {ECO:0000250}.;
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: 0.0806

Intolerance Scores

loftool: 0.820
rvis_EVS: 0.6
rvis_percentile_EVS: 82.74

Haploinsufficiency Scores

pHI: 0.137
hipred: N
hipred_score: 0.272
ghis: 0.431

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.722

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Fbxw9
Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; skeleton phenotype; respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; vision/eye phenotype; immune system phenotype;

Gene ontology

Biological process: protein polyubiquitination;post-translational protein modification
Cellular component: cytosol;preribosome, large subunit precursor;PeBoW complex
Molecular function: ubiquitin-protein transferase activity;protein binding