FUT6
Basic information
Region (hg38): 19:5830408-5839722
Links
Phenotypes
GenCC
Source:
- fucosyltransferase 6 deficiency (No Known Disease Relationship), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Fucosyltransferase 6 deficiency | AR | General | The clinical relevance of the condition is unclear | Biochemical | 8175676 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (77 variants)
- not_provided (3 variants)
- FUT6-related_disorder (1 variants)
- Fucosyltransferase_6_deficiency (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000150.4. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 74 | 78 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 74 | 7 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FUT6 | protein_coding | protein_coding | ENST00000318336 | 1 | 9122 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.708 | 256 | 226 | 1.13 | 0.0000170 | 2329 |
Missense in Polyphen | 109 | 90.155 | 1.209 | 1068 | ||
Synonymous | -1.17 | 115 | 100 | 1.15 | 0.00000820 | 729 |
Loss of Function |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | ||
East Asian | ||
Finnish | ||
European (Non-Finnish) | ||
Middle Eastern | ||
South Asian | ||
Other |
dbNSFP
Source:
- Function
- FUNCTION: Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP- beta-fucose to alpha-2,3 sialylated substrates.;
- Pathway
- Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human);Glycosphingolipid biosynthesis - lactoseries
(Consensus)
Recessive Scores
- pRec
- 0.123
Intolerance Scores
- loftool
- 0.839
- rvis_EVS
- 0.18
- rvis_percentile_EVS
- 66.13
Haploinsufficiency Scores
- pHI
- 0.0902
- hipred
- N
- hipred_score
- 0.236
- ghis
- 0.400
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.112
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- protein glycosylation;ceramide metabolic process;fucosylation;L-fucose catabolic process
- Cellular component
- Golgi apparatus;integral component of membrane;Golgi cisterna membrane;extracellular exosome
- Molecular function
- fucosyltransferase activity;3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity;alpha-(1->3)-fucosyltransferase activity