FBXO25

F-box protein 25, the group of F-boxes other

Basic information

Region (hg38): 8:406428-477967

Links

ENSG00000147364 ∙ NCBI:26260 ∙ OMIM:609098 ∙ HGNC:13596 ∙ Uniprot:Q8TCJ0 ∙ 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 FBXO25 gene.

• not_specified (53 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO25 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000183420.2. 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			52	1		53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO25	protein_coding	protein_coding	ENST00000276326	10	64798

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000199	0.995	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.571	217	195	1.12	0.0000103	2453
Missense in Polyphen		75	66.606	1.126		808
Synonymous	-3.95	117	73.8	1.58	0.00000434	616
Loss of Function	2.49	10	22.9	0.437	0.00000106	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000434	0.000433
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000444	0.0000439
Middle Eastern	0.000109	0.000109
South Asian	0.0000993	0.0000980
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. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity). {ECO:0000250}.
• Disease: DISEASE: Note=A chromosomal aberration involving FBXO25 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with SHROOM4.
• Pathway: FoxO signaling pathway - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.639
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.06

Haploinsufficiency Scores

• pHI: 0.255
• hipred: Y
• hipred_score: 0.758
• ghis: 0.587

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo25

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: ubiquitin ligase complex;nucleus;nucleolus;SCF ubiquitin ligase complex
• Molecular function: actin binding;ubiquitin-protein transferase activity