FUT6

protein-coding

fucosyltransferase 6, the group of Fucosyltransferases

Gene summary

The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_000150.4

Inheritance

ClinVar variants

U:84B:14

Top phenotype

Fucosyltransferase 6 deficiency

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr19:5,830,408-5,839,722

External References & Databases

Ensembl (ENSG00000156413)

Transcript & Mutation Effects

hg38 • Region Span ~9.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

fucosyltransferase 6 deficiencyNO_KNOWN

Inheritance Pattern: AR

Disease ID:MONDO:0013462

Submitter: Ambry Genetics

Clinical Genomic Database (CGD)

Fucosyltransferase 6 deficiencyAR

Manifestation: Biochemical

Intervention: General

Rationale: The clinical relevance of the condition is unclear

Refs: 8175676

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FUT6 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 95

not providedTotal: 3

FUT6-related disorderTotal: 1

Fucosyltransferase 6 deficiencyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000150.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				6 clinvar		6
missense			84 clinvar	7 clinvar		91
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	14	0	98

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000150.4	RefSeq	NP_000141.1	1	MANE Select
ENST00000318336.10	Ensembl	ENSP00000313398.4	1	MANE Select
NM_001040701.2	RefSeq	NP_001035791.1	1	Standard
NM_001369502.1	RefSeq	NP_001356431.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human)
Glycosphingolipid biosynthesis - lactoseries

Biological Process

protein glycosylation
ceramide metabolic process
fucosylation
L-fucose catabolic process

Molecular Function

fucosyltransferase activity
3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity
alpha-(1->3)-fucosyltransferase activity

Cellular Component

Golgi apparatus
integral component of membrane
Golgi cisterna membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000318336
Coding exons: 1
Length: 9122

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.708	256	226	1.13	0.0000170	2329
Missense (PolyPhen)		109	90.155	1.209		1068
Synonymous	-1.17	115	100	1.15	0.00000820	729
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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.;

Recessive Scores

pRec: 0.123

Intolerance Scores

LoFtool: 0.839
RVIS EVS: 0.18
RVIS percentile EVS: 66.13

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.112

Gene Damage Prediction

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