FUT11

fucosyltransferase 11, the group of Fucosyltransferases

Basic information

Region (hg38): 10:73772276-73780251

Links

ENSG00000196968 ∙ NCBI:170384 ∙ OMIM:616932 ∙ HGNC:19233 ∙ Uniprot:Q495W5 ∙ 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 FUT11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT11 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			56	1	2	59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	2	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT11	protein_coding	protein_coding	ENST00000372841	3	7961

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000176	0.681	125686	0	62	125748	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.731	307	273	1.12	0.0000130	3148
Missense in Polyphen		121	110.31	1.0969		1264
Synonymous	-0.124	122	120	1.01	0.00000621	1006
Loss of Function	1.09	11	15.7	0.703	6.75e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000651	0.000609
Ashkenazi Jewish	0.00	0.00
East Asian	0.000567	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000296	0.000281
Middle Eastern	0.000567	0.000544
South Asian	0.000262	0.000261
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.239
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.164

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fut11

Gene ontology

• Biological process: protein glycosylation;fucosylation
• Cellular component: integral component of membrane;Golgi cisterna membrane
• Molecular function: protein binding;alpha-(1->3)-fucosyltransferase activity