FBXO22

F-box protein 22, the group of F-boxes other

Basic information

Region (hg38): 15:75903876-75942511

Links

ENSG00000167196 ∙ NCBI:26263 ∙ OMIM:609096 ∙ HGNC:13593 ∙ Uniprot:Q8NEZ5 ∙ 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 FBXO22 gene.

• not specified (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO22 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						0
missense			13	1		14
nonsense						0
start loss						0
frameshift	1					1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	0	13	1	0

Variants in FBXO22

This is a list of pathogenic ClinVar variants found in the FBXO22 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-75903980-G-T		not specified	Uncertain significance (May 29, 2024)
15-75904015-C-T		not specified	Uncertain significance (Feb 16, 2023)
15-75904016-G-A		not specified	Uncertain significance (Jun 05, 2024)
15-75904504-TGGAG-T		not specified • Neurodevelopmental disorder	Pathogenic (Oct 04, 2024)
15-75904511-A-C		not specified	Uncertain significance (May 08, 2024)
15-75904511-A-G		not specified	Uncertain significance (Jun 16, 2022)
15-75904522-A-G		not specified	Uncertain significance (Oct 06, 2022)
15-75904537-C-T		not specified	Uncertain significance (Dec 10, 2024)
15-75913210-G-A		not specified	Likely benign (Feb 15, 2023)
15-75913243-A-G		not specified	Uncertain significance (Oct 22, 2024)
15-75917276-T-G		not specified	Uncertain significance (Nov 24, 2024)
15-75917301-T-C		not specified	Uncertain significance (Aug 31, 2022)
15-75917309-A-C		not specified	Uncertain significance (Oct 04, 2024)
15-75917386-C-T		not specified	Uncertain significance (Jan 22, 2024)
15-75929913-G-A		not specified	Uncertain significance (Dec 03, 2024)
15-75929992-T-A			Uncertain significance (Feb 08, 2023)
15-75929992-T-C		not specified	Uncertain significance (Aug 02, 2022)
15-75932687-A-T		not specified	Uncertain significance (Dec 04, 2023)
15-75932770-G-A		not specified	Uncertain significance (Apr 05, 2023)
15-75932822-C-T		not specified	Uncertain significance (May 11, 2022)
15-75932896-G-A		not specified	Uncertain significance (Mar 22, 2023)
15-75932933-T-G		not specified	Uncertain significance (Jun 24, 2022)
15-75932990-G-A		not specified	Uncertain significance (Oct 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO22	protein_coding	protein_coding	ENST00000308275	7	31410

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.977	0.0225	125742	0	5	125747	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.837	188	223	0.842	0.0000112	2615
Missense in Polyphen		55	73.728	0.74598		845
Synonymous	-0.595	91	84.1	1.08	0.00000423	802
Loss of Function	3.48	1	16.0	0.0623	8.27e-7	198

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)	0.0000266	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
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. Promotes the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and filamin-C (FLNC), essential for maintenance of normal contractile function. {ECO:0000269|PubMed:22972877}.
• 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)

Intolerance Scores

• loftool: 0.103
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

• pHI: 0.100
• hipred: Y
• hipred_score: 0.816
• ghis: 0.638

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.596

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo22
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: protein polyubiquitination;cellular protein modification process;ubiquitin-dependent protein catabolic process;nucleocytoplasmic transport;cellular response to starvation;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;post-translational protein modification;regulation of skeletal muscle fiber development
• Cellular component: nucleus;cytosol;Z disc
• Molecular function: ubiquitin-protein transferase activity;protein binding