FUT4

Chr 11

fucosyltransferase 4

Also known as: CD15, ELFT, FCT3A, FUC-TIV, FUTIV, LeX, SSEA-1

NCBI Gene: 2526 ENSG00000196371 UniProt: P22083 OMIM: 104230

The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.14LOEUF

pLI 0.000

Z-score 1.18

OE 0.67 (0.41–1.14)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.73Z-score

OE missense 0.88 (0.80–0.98)

259 obs / 294.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.67 (0.41–1.14)

0≤0.351.4

Missense OE?0.88 (0.80–0.98)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 10 / 14.9Missense obs/exp: 259 / 294.2Syn Z: -0.13

Background carrier burden — how many people carry a rare variant somewhere in FUT4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 82

939 rare PASS variants

Rare truncating (LoF)

1 in 530

112 rare PASS variants

Rare synonymous (reference)

1 in 140

448 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FUT4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 810
South Asian	~43k	1 in 73	1 in 780
Remaining (unassigned)	~30k	1 in 78	1 in 520
European (Finnish)	~27k	1 in 180	1 in 960
Admixed American	~22k	1 in 77	1 in 1,100
African / African American	~21k	1 in 52	1 in 1,600
East Asian	~20k	1 in 76	1 in 720
Ashkenazi Jewish	~13k	1 in 760	≈ 1 in 6,300
Middle Eastern	~2,884	1 in 64	≈ 1 in 600

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓