| Variant ID | 27837 |
|---|---|
| Entrez Gene ID | 2530 |
| Gene | FUT8 (GeneCards) |
| Location | hg19 14:66711252-66711252
hg38 14:66244534-66244534 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000014.8:g.66711252 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0354 |
| CADD Raw score (version 1.3) | 0.075479 (Deleterious) |
| FATHMM raw prediction score | 0.19393 (Tolerated) |
| Deleterious probability by DeFine | 0.4741 (Neutral) |
| Entrez Gene ID | 2530 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FUT8 (GeneCards) |
| Number of variants in FUT8 in this database | 18 (view all the variants) |
| Full name | fucosyltransferase 8 |
| Band | 14q23.3 |
| Other IDs | Vega: OTTHUMG00000142818 OMIM: 602589 HGNC: HGNC:4019 Ensembl: ENSG00000033170 |
| Other names | CDGF |
| Summary | This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |