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.

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.

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 clinvar	3
missense			9 clinvar			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	3

Variants in FBXO45

This is a list of pathogenic ClinVar variants found in the FBXO45 region.

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

Position	Phenotype	Significance	ClinVar
3-196569004-G-T	not specified	Uncertain significance (Jan 22, 2025)	3849544
3-196569009-G-A	not specified	Uncertain significance (Sep 29, 2022)	2226671
3-196569017-C-T		Benign (Dec 31, 2019)	773676
3-196569027-G-A	not specified	Uncertain significance (Dec 16, 2023)	3093775
3-196569049-C-T	not specified	Uncertain significance (Nov 10, 2024)	3514083
3-196569069-G-T	not specified	Uncertain significance (Jul 19, 2023)	2612878
3-196569081-G-A	not specified	Uncertain significance (Sep 21, 2023)	3093776
3-196569192-C-G	not specified	Uncertain significance (Jan 24, 2025)	3849542
3-196569245-G-C		Benign (Dec 27, 2018)	778120
3-196569275-G-C		Benign (Dec 27, 2018)	726054
3-196577472-C-T	not specified	Uncertain significance (Dec 15, 2023)	3093773
3-196577515-G-C	not specified	Uncertain significance (Jan 31, 2024)	3093774
3-196577627-C-G	not specified	Uncertain significance (Feb 13, 2025)	3849545
3-196584190-C-T	not specified	Uncertain significance (Feb 06, 2023)	2481373
3-196584227-T-A	not specified	Uncertain significance (Sep 20, 2024)	3514084

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
0.971	0.0293	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

loftool
rvis_EVS: -0.03
rvis_percentile_EVS: 51.04

Haploinsufficiency Scores

pHI: 0.267
hipred: Y
hipred_score: 0.696
ghis: 0.623

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

Mouse Genome Informatics

Gene name: Fbxo45
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); cellular phenotype;

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