FBXL15

F-box and leucine rich repeat protein 15, the group of F-box and leucine rich repeat proteins

Basic information

Region (hg38): 10:102419189-102423136

Previous symbols: [ "FBXO37" ]

Links

ENSG00000107872 ∙ NCBI:79176 ∙ OMIM:610287 ∙ HGNC:28155 ∙ Uniprot:Q9H469 ∙ 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 FBXL15 gene.

• not_specified (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024326.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			27			27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL15	protein_coding	protein_coding	ENST00000224862	4	3948

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0143	0.881	123953	0	7	123960	0.0000282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.67	98	157	0.624	0.00000727	1824
Missense in Polyphen		30	55.982	0.53589		730
Synonymous	-0.209	80	77.7	1.03	0.00000371	678
Loss of Function	1.35	4	8.18	0.489	3.49e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000694	0.0000633
Ashkenazi Jewish	0.00	0.00
East Asian	0.000115	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000296	0.0000269
Middle Eastern	0.000115	0.000109
South Asian	0.0000333	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2. {ECO:0000269|PubMed:21572392}.
• 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: 0.105

Haploinsufficiency Scores

• pHI: 0.205
• hipred: Y
• hipred_score: 0.716
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.579

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl15

Zebrafish Information Network

• Gene name: fbxl15
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: increased curvature

Gene ontology

• Biological process: G2/M transition of mitotic cell cycle;protein polyubiquitination;ubiquitin-dependent protein catabolic process;dorsal/ventral pattern formation;protein ubiquitination;bone mineralization;positive regulation of BMP signaling pathway;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;post-translational protein modification
• Cellular component: cytoplasm;cytosol;SCF ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;protein binding