| Variant ID | 15028 |
|---|---|
| Entrez Gene ID | 2526 |
| Gene | FUT4 (GeneCards) |
| Location | hg19 11:94298568-94298568
hg38 11:94565402-94565402 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.94298568 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0372 |
| CADD Raw score (version 1.3) | 0.312946 (Deleterious) |
| FATHMM raw prediction score | 0.15931 (Tolerated) |
| Deleterious probability by DeFine | 0.3437 (Neutral) |
| Entrez Gene ID | 2526 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FUT4 (GeneCards) |
| Number of variants in FUT4 in this database | 1 (view all the variants) |
| Full name | fucosyltransferase 4 |
| Band | 11q21 |
| Other IDs | Vega: OTTHUMG00000167795 OMIM: 104230 HGNC: HGNC:4015 Ensembl: ENSG00000196371 |
| Other names | LeX, CD15, ELFT, FCT3A, FUTIV, SSEA-1, FUC-TIV |
| Summary | The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |