FBXO45

F-box protein 45, the group of F-boxes other

Basic information

Region (hg38): 3:196568611-196589059

Links

ENSG00000174013 ∙ NCBI:200933 ∙ OMIM:609112 ∙ HGNC:29148 ∙ Uniprot:P0C2W1 ∙ 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 FBXO45 gene.

• not_specified (17 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO45 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001105573.2. 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					3	3
missense			17			17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	0	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO45	protein_coding	protein_coding	ENST00000311630	3	20449

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

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.34	62	140	0.443	0.00000705	1828
Missense in Polyphen		14	65.784	0.21282		758
Synonymous	0.684	45	51.2	0.878	0.00000243	586
Loss of Function	3.06	0	10.9	0.00	5.98e-7	118

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: Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation. {ECO:0000250, ECO:0000269|PubMed:19581926}.
• Pathway: p73 transcription factor network (Consensus)

Intolerance Scores

• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.04

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.918

Gene Damage Prediction

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

Gene ontology

• Biological process: neuron migration;ubiquitin-dependent protein catabolic process;cellular response to DNA damage stimulus;protein ubiquitination;cerebral cortex radially oriented cell migration;cerebral cortex tangential migration;corticospinal tract morphogenesis;anterior commissure morphogenesis;proteasome-mediated ubiquitin-dependent protein catabolic process;synapse assembly involved in innervation
• Cellular component: postsynaptic density;SCF ubiquitin ligase complex;cell junction;presynaptic membrane;synapse;postsynaptic membrane;glutamatergic synapse;presynaptic cytosol;postsynaptic cytosol
• Molecular function: ubiquitin-protein transferase activity;protein binding