FUT5

fucosyltransferase 5, the group of Fucosyltransferases

Basic information

Region (hg38): 19:5865825-5870540

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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			44	7	2	53
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	8	2

Variants in FUT5

This is a list of pathogenic ClinVar variants found in the FUT5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-5866620-A-T		not specified	Uncertain significance (May 17, 2023)
19-5866627-G-A		not specified	Uncertain significance (Feb 15, 2023)
19-5866629-A-G		not specified	Uncertain significance (May 25, 2023)
19-5866632-G-A		not specified	Uncertain significance (Oct 29, 2021)
19-5866651-G-C		not specified	Likely benign (Aug 02, 2021)
19-5866668-G-T		not specified	Uncertain significance (May 01, 2022)
19-5866713-G-A			Benign (Nov 30, 2018)
19-5866719-C-A		not specified	Uncertain significance (Feb 10, 2022)
19-5866719-C-T		not specified	Uncertain significance (Feb 17, 2022)
19-5866725-T-C			Benign (Nov 30, 2018)
19-5866750-G-A		not specified	Uncertain significance (Jun 16, 2023)
19-5866758-T-C		not specified	Uncertain significance (Mar 15, 2024)
19-5866780-C-T		not specified	Uncertain significance (Apr 22, 2022)
19-5866825-C-T		not specified	Uncertain significance (Dec 11, 2023)
19-5866843-C-G		not specified	Uncertain significance (May 17, 2023)
19-5866843-C-T		not specified	Uncertain significance (Mar 19, 2024)
19-5866873-C-T		not specified	Uncertain significance (Aug 24, 2022)
19-5866896-G-A		not specified	Uncertain significance (Jun 28, 2022)
19-5866927-C-T		not specified	Uncertain significance (Jun 09, 2022)
19-5866956-T-C		not specified	Uncertain significance (Oct 12, 2021)
19-5866958-G-C		not specified	Uncertain significance (Feb 07, 2023)
19-5866966-A-G		not specified	Uncertain significance (Mar 16, 2024)
19-5866969-G-A		not specified	Uncertain significance (Apr 14, 2022)
19-5866977-G-A		not specified	Uncertain significance (Jan 25, 2023)
19-5866996-T-G		not specified	Likely benign (Nov 09, 2021)

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