| Variant ID | 20673 |
|---|---|
| Entrez Gene ID | 83539 |
| Gene | CHST9 (GeneCards) |
| Location | hg19 18:25185154-25185154
hg38 18:27605190-27605190 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.25185154 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1466 |
| CADD Raw score (version 1.3) | 0.102396 (Deleterious) |
| FATHMM raw prediction score | 0.10985 (Tolerated) |
| Deleterious probability by DeFine | 0.619 (Deleterious) |
| Entrez Gene ID | 83539 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHST9 (GeneCards) |
| Number of variants in CHST9 in this database | 12 (view all the variants) |
| Full name | carbohydrate sulfotransferase 9 |
| Band | 18q11.2 |
| Other IDs | Vega: OTTHUMG00000179469 OMIM: 610191 HGNC: HGNC:19898 Ensembl: ENSG00000154080 |
| Other names | GalNAc4ST2, GALNAC4ST-2 |
| Summary | The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.16 (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; |