Variant ID | 19710 |
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Entrez Gene ID | 9951 |
Gene | HS3ST4 (GeneCards) |
Location | hg19 16:26591050-26591050
hg38 16:26579729-26579729 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000016.9:g.26591050 T>A (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 | 90354753 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.3434 |
CADD Raw score (version 1.3) | -0.019868 (Deleterious) |
FATHMM raw prediction score | 0.09946 (Tolerated) |
Deleterious probability by DeFine | 0.3424 (Neutral) |
Entrez Gene ID | 9951 (NCBI Gene) |
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Official Gene Symbol | HS3ST4 (GeneCards) |
Number of variants in HS3ST4 in this database | 31 (view all the variants) |
Full name | heparan sulfate-glucosamine 3-sulfotransferase 4 |
Band | 16p12.1 |
Other IDs | Vega: OTTHUMG00000059978 OMIM: 604059 HGNC: HGNC:5200 Ensembl: ENSG00000182601 |
Other names | 30ST4, 3OST4, 3-OST-4, h3-OST-4 |
Summary | This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008] |
Individual ID | 29217584.19 (view all the variants in this individual) |
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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 |
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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; |