FBXL22

F-box and leucine rich repeat protein 22, the group of F-box and leucine rich repeat proteins

Basic information

Region (hg38): 15:63597353-63602428

Links

ENSG00000197361 ∙ NCBI:283807 ∙ OMIM:609088 ∙ HGNC:27537 ∙ Uniprot:Q6P050 ∙ 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 FBXL22 gene.

• not_specified (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXL22 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001367807.1. 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						0
missense			20	1		21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXL22	protein_coding	protein_coding	ENST00000360587	2	5076

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00146	0.452	125704	0	28	125732	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.589	164	144	1.14	0.00000797	1554
Missense in Polyphen		69	60.546	1.1396		651
Synonymous	-0.685	69	62.1	1.11	0.00000343	536
Loss of Function	-0.0711	4	3.85	1.04	1.66e-7	38

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000211	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000732	0.000693
European (Non-Finnish)	0.0000573	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000352	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC). {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)

Recessive Scores

• pRec: 0.0858

Haploinsufficiency Scores

• pHI: 0.362
• hipred: N
• hipred_score: 0.123
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.178

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxl22
• Phenotype: skeleton phenotype; limbs/digits/tail phenotype

Zebrafish Information Network

• Gene name: fbxl22
• Affected structure: heart
• Phenotype tag: abnormal
• Phenotype quality: decreased contractility

Gene ontology

• Biological process: protein polyubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;post-translational protein modification
• Cellular component: nucleolus;cytosol;Z disc
• Molecular function: ubiquitin-protein transferase activity;ubiquitin protein ligase activity