FUT6

fucosyltransferase 6, the group of Fucosyltransferases

Basic information

Region (hg38): 19:5830407-5839722

Links

ENSG00000156413 ∙ NCBI:2528 ∙ OMIM:136836 ∙ HGNC:4017 ∙ Uniprot:P51993 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• fucosyltransferase 6 deficiency (No Known Disease Relationship), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Fucosyltransferase 6 deficiency	AR	General	The clinical relevance of the condition is unclear	Biochemical	8175676

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FUT6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT6 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				2		2
missense			35	2	2	39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	4	2

Variants in FUT6

This is a list of pathogenic ClinVar variants found in the FUT6 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-5831511-C-T		not specified	Likely benign (Feb 07, 2023)
19-5831535-C-G		not specified	Likely benign (Aug 11, 2022)
19-5831585-C-T		not specified	Uncertain significance (Mar 25, 2024)
19-5831586-G-A		not specified	Uncertain significance (Aug 09, 2021)
19-5831589-G-A		not specified	Uncertain significance (Apr 24, 2023)
19-5831600-T-C		not specified	Uncertain significance (Dec 16, 2023)
19-5831604-G-A		not specified	Uncertain significance (Dec 28, 2022)
19-5831611-A-C			Uncertain significance (-)
19-5831623-G-T		Fucosyltransferase 6 deficiency	Conflicting classifications of pathogenicity (Jan 26, 2017)
19-5831660-C-A		not specified	Uncertain significance (Jan 09, 2024)
19-5831661-G-C		Fucosyltransferase 6 deficiency • FUT6-related disorder	Benign (Oct 18, 2019)
19-5831688-C-T		not specified	Uncertain significance (Dec 18, 2023)
19-5831691-C-A		not specified	Uncertain significance (Mar 17, 2023)
19-5831757-C-T		not specified	Uncertain significance (May 23, 2023)
19-5831814-G-A		not specified	Uncertain significance (Nov 09, 2021)
19-5831829-C-T		Fucosyltransferase 6 deficiency	Uncertain significance (Mar 18, 2016)
19-5831841-A-G		not specified	Uncertain significance (Dec 26, 2023)
19-5831983-T-C			Likely benign (Jun 01, 2023)
19-5832000-C-G		not specified	Uncertain significance (Jul 13, 2021)
19-5832000-C-T		not specified	Likely benign (Jun 11, 2024)
19-5832008-G-C		not specified	Uncertain significance (Sep 27, 2021)
19-5832027-G-A		not specified	Uncertain significance (Nov 21, 2023)
19-5832042-C-T		not specified	Uncertain significance (Sep 13, 2023)
19-5832050-G-A		not specified	Uncertain significance (Dec 13, 2022)
19-5832081-C-T		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT6	protein_coding	protein_coding	ENST00000318336	1	9122

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	-0.708	256	226	1.13	0.0000170	2329
Missense in Polyphen		109	90.155	1.209		1068
Synonymous	-1.17	115	100	1.15	0.00000820	729
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: Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP- beta-fucose to alpha-2,3 sialylated substrates.
• Pathway: Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human);Glycosphingolipid biosynthesis - lactoseries (Consensus)

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.839
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.13

Haploinsufficiency Scores

• pHI: 0.0902
• hipred: N
• hipred_score: 0.236
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.112

Gene Damage Prediction

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

Gene ontology

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