FBXO16

F-box protein 16, the group of F-boxes other

Basic information

Region (hg38): 8:28348287-28490278

Links

ENSG00000214050 ∙ NCBI:157574 ∙ OMIM:608519 ∙ HGNC:13618 ∙ Uniprot:Q8IX29 ∙ 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 FBXO16 gene.

• not_specified (37 variants)
• not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO16 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000172366.4. 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			2	10		12
missense			38	3		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	13	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO16	protein_coding	protein_coding	ENST00000380254	8	142032

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.61e-9	0.373	125670	0	77	125747	0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.264	169	160	1.06	0.00000846	1920
Missense in Polyphen		46	43.113	1.067		504
Synonymous	-0.402	58	54.2	1.07	0.00000265	523
Loss of Function	0.852	15	19.0	0.789	0.00000105	203

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000452	0.000450
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000490	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000353	0.000352
Middle Eastern	0.000490	0.000489
South Asian	0.000458	0.000457
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.771
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.44

Haploinsufficiency Scores

• pHI: 0.0403
• hipred: N
• hipred_score: 0.167
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.634

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbxo16
• Phenotype: homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)