| Variant ID | 10076 |
|---|---|
| Entrez Gene ID | 10690 |
| Gene | FUT9 (GeneCards) |
| Location | hg19 6:96830574-96830574
hg38 6:96382698-96382698 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.96830574 G>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1637 |
| CADD Raw score (version 1.3) | 0.060481 (Deleterious) |
| FATHMM raw prediction score | 0.17123 (Tolerated) |
| Deleterious probability by DeFine | 0.2798 (Neutral) |
| Entrez Gene ID | 10690 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FUT9 (GeneCards) |
| Number of variants in FUT9 in this database | 4 (view all the variants) |
| Full name | fucosyltransferase 9 |
| Band | 6q16.1 |
| Other IDs | Vega: OTTHUMG00000015236 OMIM: 606865 HGNC: HGNC:4020 Ensembl: ENSG00000172461 |
| Other names | Fc-TIX |
| Summary | The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011] |
| Individual ID | 29217584.17 (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; |