| Variant ID | 18582 |
|---|---|
| Entrez Gene ID | 2530 |
| Gene | FUT8 (GeneCards) |
| Location | hg19 14:66020197-66020197
hg38 14:65553479-65553479 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.66020197 T>A (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 | -0.135 |
| CADD Raw score (version 1.3) | 0.200333 (Deleterious) |
| FATHMM raw prediction score | 0.13944 (Tolerated) |
| Deleterious probability by DeFine | 0.1431 (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 | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |