FBXO47

protein-coding

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

Gene summary

Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001008777.3

Inheritance

—

ClinVar variants

U:53B:7

Top phenotype

FBXO47-related disorder

gnomAD constraint

pLI —, LoF o/e 0.3

Max pathogenic AF

—

Genomic locus

chr17:38,936,432-38,967,403

External References & Databases

Ensembl (ENSG00000204952)

Transcript & Mutation Effects

hg38 • Region Span ~31.0 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FBXO47 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 53

FBXO47-related disorderTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001008777.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	1 clinvar	3
missense			52 clinvar	4 clinvar		56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	53	6	1	60

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001008777.3	RefSeq	NP_001008777.2	10	MANE Select
ENST00000378079.3	Ensembl	ENSP00000367319.2	10	MANE Select
ENST00001141247.1	Ensembl	ENSP00000810847.1	10	Standard
XM_011524865.3	RefSeq	XP_011523167.1	10	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000378079
Coding exons: 10
Length: 30971
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 15
Defined: 125747
p: 0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0467	240	242	0.992	0.0000123	2980
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.210

Gene Damage Prediction

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