FUT7

fucosyltransferase 7, the group of Fucosyltransferases

Basic information

Region (hg38): 9:137030174-137032088

Links

ENSG00000180549 ∙ NCBI:2529 ∙ OMIM:602030 ∙ HGNC:4018 ∙ Uniprot:Q11130 ∙ 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 FUT7 gene.

• not_specified (58 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004479.4. 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						0
missense			51	7	2	60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	7	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT7	protein_coding	protein_coding	ENST00000314412	2	2837

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000129	0.614	125183	0	13	125196	0.0000519

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.557	219	243	0.899	0.0000183	2150
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000151
Ashkenazi Jewish	0.00	0.00
East Asian	0.000330	0.000327
Finnish	0.00	0.00
European (Non-Finnish)	0.0000291	0.0000266
Middle Eastern	0.000330	0.000327
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.310
• rvis_EVS: 0.58
• rvis_percentile_EVS: 82.25

Haploinsufficiency Scores

• pHI: 0.0841
• hipred: N
• hipred_score: 0.485
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.247

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fut7
• Phenotype: immune system phenotype; cellular phenotype; neoplasm; 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; digestive/alimentary phenotype

Gene ontology

• Biological process: CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;leukocyte migration involved in immune response;protein glycosylation;ceramide metabolic process;fucosylation;L-fucose catabolic process
• Cellular component: Golgi apparatus;membrane;integral component of membrane;Golgi cisterna membrane
• Molecular function: fucosyltransferase activity;alpha-(1->3)-fucosyltransferase activity