| Variant ID | 21495 |
|---|---|
| Entrez Gene ID | 55959 |
| Gene | SULF2 (GeneCards) |
| Location | hg19 20:46446800-46446800
hg38 20:47818056-47818056 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.46446800 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1353 |
| CADD Raw score (version 1.3) | 0.144479 (Deleterious) |
| FATHMM raw prediction score | 0.18159 (Tolerated) |
| Deleterious probability by DeFine | 0.5518 (Deleterious) |
| Entrez Gene ID | 55959 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SULF2 (GeneCards) |
| Number of variants in SULF2 in this database | 6 (view all the variants) |
| Full name | sulfatase 2 |
| Band | 20q13.12 |
| Other IDs | Vega: OTTHUMG00000032675 OMIM: 610013 HGNC: HGNC:20392 Ensembl: ENSG00000196562 |
| Other names | HSULF-2 |
| Summary | Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 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; |