FUT11

Gene

fucosyltransferase 11, the group of Fucosyltransferases

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:56B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr10:73,772,276-73,780,251

External References & Databases

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 FUT11 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
56
clinvar
1
clinvar
2
clinvar
59
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00562260
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • protein glycosylation
  • fucosylation

Molecular Function

  • protein binding
  • alpha-(1->3)-fucosyltransferase activity

Cellular Component

  • integral component of membrane
  • Golgi cisterna membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000372841
Coding exons
3
Length
7961
Individuals with no LoFs
125686
Homozygous LoFs
0
Heterozygous LoFs
62
Defined
125748
p
0.000247
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.7313072731.120.00001303148
Missense (PolyPhen)121110.311.09691264
Synonymous-0.1241221201.010.000006211006
Loss of Function1.091115.70.7036.75e-7169

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000530.00049rare
Latino/Admixed American0.000120.00012rare
Ashkenazi Jewish00.0absent
East Asian0.000570.00054rare
Finnish00.0absent
European (Non-Finnish)0.000300.00028rare
South Asian0.000260.00026rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Probable fucosyltransferase. {ECO:0000250}.;

Recessive Scores

pRec
0.113

Intolerance Scores

LoFtool
0.868
RVIS EVS
0.09
RVIS percentile EVS
60.47

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.164

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.