| Variant ID | 4356 |
|---|---|
| Entrez Gene ID | 9394 |
| Gene | HS6ST1 (GeneCards) |
| Location | hg19 2:129455112-129455112
hg38 2:128697538-128697538 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.129455112 A>G (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0129 |
| CADD Raw score (version 1.3) | 1.24188 (Deleterious) |
| FATHMM raw prediction score | 0.4718 (Tolerated) |
| Deleterious probability by DeFine | 0.0777 (Neutral) |
| Entrez Gene ID | 9394 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HS6ST1 (GeneCards) |
| Number of variants in HS6ST1 in this database | 4 (view all the variants) |
| Full name | heparan sulfate 6-O-sulfotransferase 1 |
| Band | 2q14.3 |
| Other IDs | Vega: OTTHUMG00000153542 OMIM: 604846 HGNC: HGNC:5201 Ensembl: ENSG00000136720 |
| Other names | HH15, HS6ST |
| Summary | The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [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; |