| Variant ID | 14926 |
|---|---|
| Entrez Gene ID | 51363 |
| Gene | CHST15 (GeneCards) |
| Location | hg19 10:126054180-126054180
hg38 10:124365611-124365611 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.126054180 A>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.199439 (Deleterious) |
| FATHMM raw prediction score | 0.15681 (Tolerated) |
| Deleterious probability by DeFine | 0.3495 (Neutral) |
| Entrez Gene ID | 51363 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHST15 (GeneCards) |
| Number of variants in CHST15 in this database | 2 (view all the variants) |
| Full name | carbohydrate sulfotransferase 15 |
| Band | 10q26.13 |
| Other IDs | Vega: OTTHUMG00000019208 OMIM: 608277 HGNC: HGNC:18137 Ensembl: ENSG00000182022 |
| Other names | BRAG, GALNAC4S-6ST |
| Summary | Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |