FUT4

fucosyltransferase 4, the group of Fucosyltransferases|CD molecules

Basic information

Region (hg38): 11:94543921-94549895

Previous symbols: [ "CD15", "FCT3A", "ELFT" ]

Links

ENSG00000196371 ∙ NCBI:2526 ∙ OMIM:104230 ∙ HGNC:4015 ∙ Uniprot:P22083 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FUT4 gene.

• not_specified (77 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002033.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense			69	9	1	79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	13	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT4	protein_coding	protein_coding	ENST00000358752	1	6047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000773	0.757	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.729	259	294	0.880	0.0000174	3260
Missense in Polyphen		86	119.57	0.71922		1223
Synonymous	-0.125	140	138	1.01	0.00000850	1171
Loss of Function	1.18	10	14.9	0.670	6.91e-7	151

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens.
• Pathway: Mannose type O-glycan biosynthesis - Homo sapiens (human);Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.358

Haploinsufficiency Scores

• pHI: 0.0571
• hipred: N
• hipred_score: 0.274

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.639

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fut4
• 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); hematopoietic system phenotype; immune system phenotype; cellular phenotype

Gene ontology

• Biological process: carbohydrate metabolic process;protein glycosylation;fucosylation;L-fucose catabolic process
• Cellular component: Golgi apparatus;cell surface;membrane;integral component of membrane;Golgi cisterna membrane;cell periphery
• Molecular function: fucosyltransferase activity;alpha-(1->3)-fucosyltransferase activity