FBXO15

F-box protein 15, the group of F-boxes other

Basic information

Region (hg38): 18:74073353-74147843

Links

ENSG00000141665 ∙ NCBI:201456 ∙ OMIM:609093 ∙ HGNC:13617 ∙ Uniprot:Q8NCQ5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBXO15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO15 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	1
missense			31	2		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	2	1

Variants in FBXO15

This is a list of pathogenic ClinVar variants found in the FBXO15 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-74073490-T-C		not specified	Uncertain significance (Dec 27, 2023)
18-74073496-C-T		not specified	Uncertain significance (Jun 21, 2022)
18-74073526-T-C		not specified	Uncertain significance (May 13, 2024)
18-74073539-G-A			Benign (Dec 31, 2019)
18-74073544-C-G		not specified	Uncertain significance (Apr 24, 2024)
18-74073582-G-T		not specified	Uncertain significance (Nov 25, 2024)
18-74073589-C-T		not specified	Uncertain significance (Sep 02, 2024)
18-74073591-T-C		not specified	Uncertain significance (Apr 17, 2024)
18-74073663-G-A		not specified	Uncertain significance (Nov 16, 2021)
18-74073712-C-T		not specified	Uncertain significance (Sep 21, 2021)
18-74081937-C-T		not specified	Uncertain significance (Mar 16, 2024)
18-74081949-T-C		not specified	Uncertain significance (May 01, 2024)
18-74081988-A-G		not specified	Uncertain significance (Dec 06, 2023)
18-74082014-T-C		not specified	Uncertain significance (May 17, 2023)
18-74123392-A-G		not specified	Uncertain significance (Dec 19, 2023)
18-74123419-C-T		not specified	Uncertain significance (Jun 21, 2023)
18-74123499-A-C		not specified	Uncertain significance (Jun 11, 2021)
18-74124559-G-C		not specified	Uncertain significance (Dec 01, 2022)
18-74126025-G-C		not specified	Uncertain significance (Jul 09, 2024)
18-74126045-G-T		not specified	Uncertain significance (Jan 24, 2024)
18-74126050-T-C		not specified	Uncertain significance (Dec 27, 2022)
18-74126090-T-A		not specified	Uncertain significance (Jul 06, 2024)
18-74126096-C-T		not specified	Uncertain significance (Dec 28, 2023)
18-74129457-A-G		not specified	Uncertain significance (Jan 29, 2024)
18-74129481-C-T		not specified	Uncertain significance (Aug 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO15	protein_coding	protein_coding	ENST00000419743	10	74513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.711	0.289	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.479	251	273	0.918	0.0000137	3318
Missense in Polyphen		57	74.391	0.76622		948
Synonymous	-0.401	109	104	1.05	0.00000590	991
Loss of Function	3.51	4	21.6	0.185	9.95e-7	285

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000553	0.000550
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000889	0.0000879
Middle Eastern	0.000163	0.000163
South Asian	0.000131	0.0000980
Other	0.000164	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}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Neddylation (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.761
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.73

Haploinsufficiency Scores

• pHI: 0.0959
• hipred: N
• hipred_score: 0.493
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.214

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo15
• Phenotype: normal phenotype

Gene ontology

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