FUT8

fucosyltransferase 8, the group of Fucosyltransferases|MicroRNA protein coding host genes

Basic information

Region (hg38): 14:65410592-65744121

Links

ENSG00000033170 ∙ NCBI:2530 ∙ OMIM:602589 ∙ HGNC:4019 ∙ Uniprot:Q9BYC5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital disorder of glycosylation with defective fucosylation 1 (Strong), mode of inheritance: AR
• congenital disorder of glycosylation with defective fucosylation 1 (Moderate), mode of inheritance: AR
• congenital disorder of glycosylation with defective fucosylation 1 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Congenital disorder of glycosylation with defective fucosylation 1	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Craniofacial; Musculoskeletal; Neurologic	29304374

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FUT8 gene.

• not provided (1 variants)
• Inborn genetic diseases (1 variants)
• Congenital disorder of glycosylation with defective fucosylation 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT8 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				24	2	26
missense			36	2	2	40
nonsense	1	1	1			3
start loss						0
frameshift		1				1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			2	11	23	36
Total	1	2	39	37	27

Variants in FUT8

This is a list of pathogenic ClinVar variants found in the FUT8 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-65561347-G-A			Likely benign (Mar 06, 2020)
14-65561567-C-T		Inborn genetic diseases	Uncertain significance (Apr 20, 2024)
14-65561569-G-T			Likely benign (Jan 03, 2023)
14-65561575-G-A		Congenital disorder of glycosylation with defective fucosylation 1	Likely pathogenic (Sep 23, 2020)
14-65561583-C-T		Inborn genetic diseases • Congenital disorder of glycosylation with defective fucosylation 1	Uncertain significance (Jun 07, 2024)
14-65561584-C-T			Likely benign (Aug 05, 2023)
14-65561589-G-A		Inborn genetic diseases	Uncertain significance (Dec 02, 2022)
14-65561603-A-G		Inborn genetic diseases	Uncertain significance (May 28, 2024)
14-65561618-G-C		See cases	Uncertain significance (Jun 30, 2020)
14-65561728-A-G		not specified • Congenital disorder of glycosylation with defective fucosylation 1 • FUT8-related disorder	Benign (Jan 31, 2024)
14-65561741-T-A		Inborn genetic diseases	Uncertain significance (Jul 05, 2023)
14-65561760-C-T		Inborn genetic diseases	Uncertain significance (Jul 15, 2022)
14-65561765-C-T		Inborn genetic diseases	Uncertain significance (Jul 14, 2021)
14-65561787-T-C			Benign (Jul 27, 2018)
14-65615775-C-T			Benign (Oct 16, 2018)
14-65615777-A-G			Benign (May 24, 2021)
14-65615855-A-G			Benign (Jul 27, 2018)
14-65615960-A-G			Likely benign (Dec 18, 2023)
14-65615974-A-G		FUT8-related disorder	Likely benign (Apr 08, 2019)
14-65615996-T-G		Inborn genetic diseases • Congenital disorder of glycosylation with defective fucosylation 1	Uncertain significance (Jul 05, 2022)
14-65616025-G-A		Inborn genetic diseases	Uncertain significance (May 26, 2023)
14-65616026-C-T			Likely benign (Jul 17, 2023)
14-65616028-T-A			Uncertain significance (Aug 17, 2022)
14-65616038-G-A			Likely benign (Nov 28, 2023)
14-65616041-G-C		Inborn genetic diseases	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT8	protein_coding	protein_coding	ENST00000360689	9	333530

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00993	0.990	125726	0	21	125747	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.20	206	316	0.652	0.0000171	3760
Missense in Polyphen		60	133.22	0.45037		1573
Synonymous	-1.79	131	107	1.22	0.00000525	1093
Loss of Function	3.75	10	33.3	0.300	0.00000215	346

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.0000995	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans. {ECO:0000269|PubMed:17172260, ECO:0000269|PubMed:9133635}.
• Pathway: N-Glycan biosynthesis - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Glycosaminoglycan biosynthesis - keratan sulfate - Homo sapiens (human);MECP2 and Associated Rett Syndrome;Post-translational protein modification;Reactions specific to the complex N-glycan synthesis pathway;N-glycan antennae elongation in the medial/trans-Golgi;Metabolism of proteins;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;N-Glycan biosynthesis (Consensus)

Recessive Scores

• pRec: 0.201

Intolerance Scores

• loftool: 0.298
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.43

Haploinsufficiency Scores

• pHI: 0.118
• hipred: Y
• hipred_score: 0.765
• ghis: 0.599

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.497

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fut8
• Phenotype: growth/size/body region phenotype; skeleton phenotype; embryo phenotype; respiratory system phenotype; liver/biliary system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype

Zebrafish Information Network

• Gene name: fut8a
• Affected structure: retinal ganglion cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: in utero embryonic development;protein N-linked glycosylation;N-glycan processing;transforming growth factor beta receptor signaling pathway;integrin-mediated signaling pathway;respiratory gaseous exchange;oligosaccharide biosynthetic process;regulation of gene expression;cell migration;protein N-linked glycosylation via asparagine;protein glycosylation in Golgi;N-glycan fucosylation;L-fucose catabolic process;receptor metabolic process;GDP-L-fucose metabolic process;regulation of cellular response to oxidative stress
• Cellular component: Golgi membrane;Golgi apparatus;cytosol;membrane;integral component of membrane;Golgi cisterna membrane;extracellular exosome
• Molecular function: glycoprotein 6-alpha-L-fucosyltransferase activity;SH3 domain binding;alpha-(1->6)-fucosyltransferase activity