| Variant ID | 21993 |
|---|---|
| Entrez Gene ID | 90161 |
| Gene | HS6ST2 (GeneCards) |
| Location | hg19 X:131768875-131768875
hg38 X:132634847-132634847 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.131768875 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.046722 (Deleterious) |
| FATHMM raw prediction score | 0.16889 (Tolerated) |
| Deleterious probability by DeFine | 0.5086 (Deleterious) |
| Entrez Gene ID | 90161 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HS6ST2 (GeneCards) |
| Number of variants in HS6ST2 in this database | 2 (view all the variants) |
| Full name | heparan sulfate 6-O-sulfotransferase 2 |
| Band | Xq26.2 |
| Other IDs | Vega: OTTHUMG00000022430 OMIM: 300545 HGNC: HGNC:19133 Ensembl: ENSG00000171004 |
| Other names | None |
| Summary | Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| 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; |