FBXO36

F-box protein 36, the group of F-boxes other

Basic information

Region (hg38): 2:229922302-230013119

Links

ENSG00000153832

∙ NCBI:130888 ∙ OMIM:609105 ∙ HGNC:27020 ∙ Uniprot:Q8NEA4 ∙ 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 FBXO36 gene.

not_specified (26 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO36 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000174899.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			26 clinvar	2 clinvar		28
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	29	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBXO36	protein_coding	protein_coding	ENST00000283946	4	90808

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.93e-7	0.181	125580	1	167	125748	0.000668

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.398	111	99.8	1.11	0.00000514	1205
Missense in Polyphen		26	26.174	0.99335		324
Synonymous	0.0684	40	40.6	0.986	0.00000220	361
Loss of Function	-0.139	9	8.56	1.05	4.27e-7	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000357	0.000357
Ashkenazi Jewish	0.00	0.00
East Asian	0.00618	0.00605
Finnish	0.00	0.00
European (Non-Finnish)	0.000143	0.000141
Middle Eastern	0.00618	0.00605
South Asian	0.00101	0.000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. {ECO:0000250}.;

Recessive Scores

pRec: 0.0816

Intolerance Scores

loftool: 0.836
rvis_EVS: 0.13
rvis_percentile_EVS: 63

Haploinsufficiency Scores

pHI: 0.183
hipred: N
hipred_score: 0.167
ghis: 0.508

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.407

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Fbxo36
Phenotype: hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); immune system phenotype;