FBXO34

F-box protein 34, the group of F-boxes other

Basic information

Region (hg38): 14:55271343-55370053

Links

ENSG00000178974 ∙ NCBI:55030 ∙ OMIM:609104 ∙ HGNC:20201 ∙ Uniprot:Q9NWN3 ∙ 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 FBXO34 gene.

• Inborn genetic diseases (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO34 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			23	4		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	26	4	0

Variants in FBXO34

This is a list of pathogenic ClinVar variants found in the FBXO34 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-55350415-C-T		not specified	Uncertain significance (Mar 22, 2023)
14-55350437-C-T		not specified	Likely benign (Jul 27, 2021)
14-55350455-C-T		not specified	Uncertain significance (Jan 03, 2024)
14-55350481-A-G		not specified	Likely benign (Sep 01, 2021)
14-55350527-G-C		not specified	Uncertain significance (Oct 05, 2023)
14-55350527-G-T		not specified	Uncertain significance (May 23, 2023)
14-55350657-G-T		not specified	Uncertain significance (Dec 05, 2022)
14-55350674-C-T		not specified	Uncertain significance (Mar 20, 2023)
14-55350925-C-A		not specified	Uncertain significance (Jun 24, 2022)
14-55350968-G-T		not specified	Uncertain significance (Oct 17, 2023)
14-55350976-G-A		not specified	Uncertain significance (Dec 07, 2021)
14-55351012-A-T		not specified	Uncertain significance (Apr 18, 2023)
14-55351087-C-T		not specified	Uncertain significance (Dec 18, 2023)
14-55351211-G-A		not specified	Uncertain significance (Sep 07, 2022)
14-55351223-G-A		not specified	Uncertain significance (May 03, 2023)
14-55351228-C-T		not specified	Uncertain significance (Mar 17, 2023)
14-55351236-G-C		not specified	Uncertain significance (Aug 12, 2022)
14-55351259-G-A		not specified	Uncertain significance (Dec 27, 2022)
14-55351280-G-A		not specified	Uncertain significance (Aug 11, 2022)
14-55351346-A-G		not specified	Uncertain significance (Dec 07, 2023)
14-55351399-G-C		not specified	Uncertain significance (Nov 12, 2021)
14-55351528-G-T		not specified	Uncertain significance (Apr 14, 2023)
14-55351565-G-A		not specified	Likely benign (May 05, 2023)
14-55351615-G-A		not specified	Uncertain significance (May 31, 2023)
14-55351642-T-C		not specified	Likely benign (Feb 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO34	protein_coding	protein_coding	ENST00000313833	1	90616

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.117	0.883	125713	0	20	125733	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.489	351	378	0.929	0.0000194	4687
Missense in Polyphen		72	124.66	0.57756		1582
Synonymous	-1.04	157	141	1.11	0.00000712	1383
Loss of Function	3.23	6	22.6	0.266	0.00000133	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000294	0.0000294
Ashkenazi Jewish	0.00	0.00
East Asian	0.000219	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000809	0.0000791
Middle Eastern	0.000219	0.000217
South Asian	0.000172	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0913

Intolerance Scores

• loftool: 0.755
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.71

Haploinsufficiency Scores

• pHI: 0.263
• hipred: N
• hipred_score: 0.221
• ghis: 0.446

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.736

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo34

Gene ontology

• Molecular function: protein binding