FBXL17

F-box and leucine rich repeat protein 17, the group of F-box and leucine rich repeat proteins

Basic information

Region (hg38): 5:107859035-108382098

Previous symbols: [ "FBXO13" ]

Links

ENSG00000145743 ∙ NCBI:64839 ∙ OMIM:609083 ∙ HGNC:13615 ∙ Uniprot:Q9UF56 ∙ 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 FBXL17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL17 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				3	1	4
missense			46		1	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	46	3	2

Variants in FBXL17

This is a list of pathogenic ClinVar variants found in the FBXL17 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-107861763-T-C		not specified	Uncertain significance (Apr 15, 2024)
5-107861847-G-A		not specified	Uncertain significance (Jan 31, 2022)
5-108020943-A-G		not specified	Uncertain significance (Feb 27, 2024)
5-108020997-C-T		not specified	Uncertain significance (Jan 19, 2022)
5-108186179-A-G			Likely benign (Jul 16, 2018)
5-108186187-T-C		not specified	Uncertain significance (Sep 06, 2022)
5-108224125-G-A		not specified	Uncertain significance (Jun 21, 2022)
5-108224214-T-C			Benign (May 09, 2018)
5-108348416-T-C		not specified	Uncertain significance (Feb 13, 2024)
5-108364772-T-C		not specified	Uncertain significance (Feb 16, 2023)
5-108364821-T-A		not specified	Uncertain significance (Apr 07, 2023)
5-108364912-A-G			Likely benign (Jul 16, 2018)
5-108367889-C-A		not specified	Uncertain significance (Feb 17, 2023)
5-108380734-C-T		not specified	Uncertain significance (Aug 02, 2021)
5-108380772-G-A		not specified	Uncertain significance (Aug 08, 2022)
5-108380786-C-G		not specified	Uncertain significance (Aug 15, 2023)
5-108380822-C-G		not specified	Uncertain significance (Apr 07, 2022)
5-108380826-G-T		not specified	Uncertain significance (Jul 09, 2021)
5-108380851-C-G		not specified	Uncertain significance (Feb 27, 2023)
5-108380854-G-C		not specified	Uncertain significance (Mar 31, 2022)
5-108380877-G-A		not specified	Uncertain significance (Aug 12, 2022)
5-108380887-C-A		not specified	Uncertain significance (Oct 03, 2022)
5-108380911-G-A		not specified	Uncertain significance (Apr 25, 2022)
5-108380929-G-A		not specified	Uncertain significance (Feb 27, 2024)
5-108380934-T-C		not specified	Uncertain significance (Apr 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL17	protein_coding	protein_coding	ENST00000542267	9	523064

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000988	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.17	133	224	0.593	0.0000116	4450
Missense in Polyphen		17	68.362	0.24867		899
Synonymous	-0.882	90	80.0	1.13	0.00000401	1428
Loss of Function	4.15	0	20.1	0.00	9.29e-7	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.621
• hipred: Y
• hipred_score: 0.572
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.123

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl17

Gene ontology

• Biological process: protein polyubiquitination;protein quality control for misfolded or incompletely synthesized proteins;nervous system development;regulation of smoothened signaling pathway;neural crest cell differentiation;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;proteasome-mediated ubiquitin-dependent protein catabolic process
• Cellular component: nucleus;cytoplasm;cytosol;SCF ubiquitin ligase complex
• Molecular function: protein binding;ubiquitin protein ligase activity