FUT10

fucosyltransferase 10, the group of Fucosyltransferases

Basic information

Region (hg38): 8:33370824-33473146

Links

ENSG00000172728 ∙ NCBI:84750 ∙ OMIM:616931 ∙ HGNC:19234 ∙ Uniprot:Q6P4F1 ∙ 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 FUT10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT10 gene is commonly pathogenic or not. These statistics are base on transcript: . 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				1		1
missense			38			38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT10	protein_coding	protein_coding	ENST00000327671	4	102599

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.41e-9	0.633	125569	1	177	125747	0.000708

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.680	286	255	1.12	0.0000136	3153
Missense in Polyphen		121	112.1	1.0794		1370
Synonymous	-0.669	110	101	1.08	0.00000553	911
Loss of Function	1.26	16	22.4	0.713	0.00000141	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000474	0.000474
Ashkenazi Jewish	0.00	0.00
East Asian	0.00158	0.00158
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000812	0.000800
Middle Eastern	0.00158	0.00158
South Asian	0.00124	0.00121
Other	0.000980	0.000978

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0965

Intolerance Scores

• loftool: 0.921
• rvis_EVS: 0.45
• rvis_percentile_EVS: 77.98

Haploinsufficiency Scores

• pHI: 0.0622
• hipred: N
• hipred_score: 0.174
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.210

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fut10

Zebrafish Information Network

• Gene name: fut10
• Affected structure: cranial nerve X
• Phenotype tag: abnormal
• Phenotype quality: position

Gene ontology

• Biological process: protein folding;protein glycosylation;protein targeting;nervous system development;fertilization;cerebral cortex radially oriented cell migration;hemopoiesis;fucosylation;wound healing;L-fucose catabolic process;neuronal stem cell population maintenance
• Cellular component: nucleoplasm;endoplasmic reticulum;Golgi apparatus;integral component of membrane;Golgi cisterna membrane
• Molecular function: alpha-(1->3)-fucosyltransferase activity