FUT7

protein-coding

fucosyltransferase 7, 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 antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008]

MANE transcript

NM_004479.4

Inheritance

—

ClinVar variants

U:58B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr9:137,030,174-137,032,088

External References & Databases

Ensembl (ENSG00000180549)

Transcript & Mutation Effects

hg38 • Region Span ~1.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FUT7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 65

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004479.4. 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				1 clinvar		1
missense			58 clinvar	7 clinvar	2 clinvar	67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	8	2	68

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004479.4	RefSeq	NP_004470.1	2	MANE Select
ENST00000314412.7	Ensembl	ENSP00000318142.6	2	MANE Select
ENST00000874316.1	Ensembl	ENSP00000544375.1	2	Standard
ENST00000874316.2	Ensembl	ENSP00000544375.1	2	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)

Biological Process

CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
leukocyte migration involved in immune response
protein glycosylation
ceramide metabolic process
fucosylation

Molecular Function

fucosyltransferase activity
alpha-(1->3)-fucosyltransferase activity

Cellular Component

Golgi apparatus
membrane
integral component of membrane
Golgi cisterna membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000314412
Coding exons: 2
Length: 2837
Individuals with no LoFs: 125183
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125196
p: 0.0000519

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.557	219	243	0.899	0.0000183	2150
Missense (PolyPhen)		43	56.865	0.75618		562
Synonymous	0.997	87	99.7	0.873	0.00000663	760
Loss of Function	0.978	11	15.1	0.728	0.00000118	94

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000063	0.000062	rare
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00033	0.00033	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000029	0.000027	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes alpha-1,3 glycosidic linkages involved in the expression of sialyl Lewis X antigens. {ECO:0000269|PubMed:11404359, ECO:0000269|PubMed:8207002, ECO:0000269|PubMed:9299472}.;

Intolerance Scores

LoFtool: 0.310
RVIS EVS: 0.58
RVIS percentile EVS: 82.25

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.247

Gene Damage Prediction

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