FUT5

fucosyltransferase 5, the group of Fucosyltransferases

Basic information

Region (hg38): 19:5865826-5870540

Links

ENSG00000130383 ∙ NCBI:2527 ∙ OMIM:136835 ∙ HGNC:4016 ∙ Uniprot:Q11128 ∙ 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 FUT5 gene.

• not_specified (99 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002034.2. 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				1		1
missense			87	12		99
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	87	13	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT5	protein_coding	protein_coding	ENST00000252675	1	37962

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.602	274	247	1.11	0.0000175	2414
Missense in Polyphen		70	77.997	0.89747		858
Synonymous	-0.719	123	113	1.09	0.00000866	774
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens.
• Pathway: Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human);Glycosphingolipid biosynthesis - lactoseries (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• rvis_EVS: 0.11
• rvis_percentile_EVS: 62.1

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.187
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.324

Gene Damage Prediction

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

Gene ontology

• Biological process: carbohydrate metabolic process;protein glycosylation;ceramide metabolic process;fucosylation;L-fucose catabolic process
• Cellular component: Golgi apparatus;integral component of membrane;Golgi cisterna membrane
• Molecular function: fucosyltransferase activity;3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity;alpha-(1->3)-fucosyltransferase activity