| Variant ID | 19714 |
|---|---|
| Entrez Gene ID | 9951 |
| Gene | HS3ST4 (GeneCards) |
| Location | hg19 16:25873982-25873982
hg38 16:25862661-25862661 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.25873982 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2873 |
| CADD Raw score (version 1.3) | -0.082375 (Deleterious) |
| FATHMM raw prediction score | 0.07261 (Tolerated) |
| Deleterious probability by DeFine | 0.355 (Neutral) |
| Entrez Gene ID | 9951 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HS3ST4 (GeneCards) |
| Number of variants in HS3ST4 in this database | 31 (view all the variants) |
| Full name | heparan sulfate-glucosamine 3-sulfotransferase 4 |
| Band | 16p12.1 |
| Other IDs | Vega: OTTHUMG00000059978 OMIM: 604059 HGNC: HGNC:5200 Ensembl: ENSG00000182601 |
| Other names | 30ST4, 3OST4, 3-OST-4, h3-OST-4 |
| Summary | This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |