| Variant ID | 8692 |
|---|---|
| Entrez Gene ID | 7903 |
| Gene | ST8SIA4 (GeneCards) |
| Location | hg19 5:100508710-100508710
hg38 5:101173006-101173006 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.100508710 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3276 |
| CADD Raw score (version 1.3) | -0.126233 (Deleterious) |
| FATHMM raw prediction score | 0.09379 (Tolerated) |
| Deleterious probability by DeFine | 0.1593 (Neutral) |
| Entrez Gene ID | 7903 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ST8SIA4 (GeneCards) |
| Number of variants in ST8SIA4 in this database | 16 (view all the variants) |
| Full name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
| Band | 5q21.1 |
| Other IDs | Vega: OTTHUMG00000128727 OMIM: 602547 HGNC: HGNC:10871 Ensembl: ENSG00000113532 |
| Other names | PST, PST1, SIAT8D, ST8SIA-IV |
| Summary | The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have 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; |