FBXO47

F-box protein 47, the group of F-boxes other

Basic information

Region (hg38): 17:38936432-38967403

Links

ENSG00000204952 ∙ NCBI:494188 ∙ OMIM:609498 ∙ HGNC:31969 ∙ Uniprot:Q5MNV8 ∙ 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 FBXO47 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO47 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				1	1	2
missense			17	3	1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	4	2

Variants in FBXO47

This is a list of pathogenic ClinVar variants found in the FBXO47 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-38937180-T-C		not specified	Likely benign (May 29, 2024)
17-38937285-G-A		not specified	Uncertain significance (Aug 28, 2023)
17-38938587-T-C		not specified	Uncertain significance (Apr 12, 2022)
17-38938608-C-T		not specified	Uncertain significance (Jan 26, 2022)
17-38938611-G-A		not specified	Uncertain significance (Jun 23, 2023)
17-38938619-A-C		not specified	Uncertain significance (Nov 17, 2022)
17-38938664-A-T		FBXO47-related disorder	Likely benign (Aug 09, 2019)
17-38938685-C-G		not specified	Uncertain significance (Oct 03, 2022)
17-38942815-G-A		not specified	Uncertain significance (Dec 11, 2023)
17-38943712-A-G		not specified	Uncertain significance (Jun 16, 2024)
17-38943728-C-A		FBXO47-related disorder	Likely benign (Apr 10, 2019)
17-38943736-C-T		not specified	Uncertain significance (Mar 29, 2024)
17-38944973-T-C		not specified	Uncertain significance (Mar 29, 2022)
17-38945096-A-G		FBXO47-related disorder	Likely benign (May 28, 2019)
17-38945127-T-C			Benign (Apr 19, 2019)
17-38951613-C-A		not specified	Uncertain significance (Feb 17, 2024)
17-38951613-C-T		not specified	Uncertain significance (Apr 19, 2023)
17-38951671-C-T		not specified	Uncertain significance (Sep 28, 2022)
17-38954903-C-T		not specified	Uncertain significance (May 14, 2024)
17-38954914-T-C		not specified	Likely benign (Mar 08, 2024)
17-38961903-G-C		not specified	Uncertain significance (Dec 27, 2023)
17-38961909-T-C		not specified	Uncertain significance (Jul 19, 2022)
17-38962848-A-C		not specified	Uncertain significance (Mar 11, 2024)
17-38962855-T-G		not specified	Uncertain significance (Dec 16, 2023)
17-38962914-T-C		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO47	protein_coding	protein_coding	ENST00000378079	10	30971

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0353	0.964	125732	0	15	125747	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0467	240	242	0.992	0.0000123	2980
Missense in Polyphen		30	40.412	0.74236		530
Synonymous	1.08	70	82.5	0.849	0.00000398	812
Loss of Function	3.16	7	23.6	0.297	0.00000115	296

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000795	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000984	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. {ECO:0000250}.

Recessive Scores

• pRec: 0.0930

Intolerance Scores

• loftool: 0.796
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.347
• hipred: N
• hipred_score: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.210

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo47
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype