FBXO27

F-box protein 27, the group of F-boxes other

Basic information

Region (hg38): 19:38990714-39032785

Links

ENSG00000161243 ∙ NCBI:126433 ∙ OMIM:609099 ∙ HGNC:18753 ∙ Uniprot:Q8NI29 ∙ 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 FBXO27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO27 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in FBXO27

This is a list of pathogenic ClinVar variants found in the FBXO27 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-39025422-G-A		not specified	Uncertain significance (Jan 18, 2022)
19-39025455-G-A		not specified	Uncertain significance (May 20, 2024)
19-39025503-C-T		not specified	Uncertain significance (Oct 07, 2024)
19-39025504-G-C		not specified	Uncertain significance (May 17, 2023)
19-39025518-G-A		not specified	Uncertain significance (Apr 19, 2024)
19-39025525-C-A		not specified	Uncertain significance (May 27, 2022)
19-39026983-C-T		not specified	Uncertain significance (Apr 22, 2022)
19-39031107-T-C		not specified	Uncertain significance (Dec 16, 2023)
19-39031115-G-C		not specified	Uncertain significance (May 09, 2023)
19-39031221-A-G		not specified	Uncertain significance (Oct 25, 2024)
19-39031870-C-A		not specified	Uncertain significance (Jan 08, 2025)
19-39031873-A-G		not specified	Uncertain significance (Apr 06, 2023)
19-39031930-G-A		not specified	Uncertain significance (Dec 21, 2022)
19-39032083-G-T		not specified	Uncertain significance (Aug 17, 2022)
19-39032164-C-T		not specified	Uncertain significance (Jan 01, 2025)
19-39032177-C-A		not specified	Uncertain significance (Jun 18, 2021)
19-39032193-C-G		not specified	Uncertain significance (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO27	protein_coding	protein_coding	ENST00000292853	5	42072

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.27e-11	0.0195	125425	2	320	125747	0.00128

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.615	129	150	0.859	0.00000842	1771
Missense in Polyphen		47	52.916	0.8882		628
Synonymous	1.16	52	63.8	0.815	0.00000370	603
Loss of Function	-0.602	15	12.7	1.18	7.38e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0141	0.0140
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000327	0.000325
Middle Eastern	0.000163	0.000163
South Asian	0.000686	0.000686
Other	0.000980	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex- type oligosaccharides. {ECO:0000269|PubMed:18203720}.
• 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: 0.104

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.442
• ghis: 0.605

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.768

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo27

Gene ontology

• Biological process: protein polyubiquitination;post-translational protein modification
• Cellular component: cytosol;SCF ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;protein binding