FETUB

fetuin B, the group of Cystatins, type 4

Basic information

Region (hg38): 3:186635969-186653141

Links

ENSG00000090512 ∙ NCBI:26998 ∙ OMIM:605954 ∙ HGNC:3658 ∙ Uniprot:Q9UGM5 ∙ 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 FETUB gene.

• not_specified (55 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FETUB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014375.3. 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				1	4	5
missense			49	6	2	57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	7	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FETUB	protein_coding	protein_coding	ENST00000265029	7	17173

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.88e-8	0.310	125440	2	306	125748	0.00123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.242	214	204	1.05	0.0000102	2448
Missense in Polyphen		67	62.192	1.0773		763
Synonymous	0.229	79	81.6	0.968	0.00000426	778
Loss of Function	0.537	12	14.2	0.846	7.50e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00490	0.00489
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000113	0.000109
Finnish	0.000231	0.000231
European (Non-Finnish)	0.00154	0.00151
Middle Eastern	0.000113	0.000109
South Asian	0.000559	0.000555
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.884
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.42

Haploinsufficiency Scores

• pHI: 0.0272
• hipred: N
• hipred_score: 0.123
• ghis: 0.392

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0579

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fetub
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: single fertilization;binding of sperm to zona pellucida;biological_process;negative regulation of endopeptidase activity
• Cellular component: extracellular region;extracellular exosome
• Molecular function: molecular_function;cysteine-type endopeptidase inhibitor activity;metalloendopeptidase inhibitor activity