| Variant ID | 12661 |
|---|---|
| Entrez Gene ID | 1846 |
| Gene | DUSP4 (GeneCards) |
| Location | hg19 8:29395575-29395575
hg38 8:29538058-29538058 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.29395575 T>C (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.2136 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs71521342 |
| EIGEN score | -0.3151 |
| CADD Raw score (version 1.3) | -0.110547 (Deleterious) |
| FATHMM raw prediction score | 0.11284 (Tolerated) |
| Deleterious probability by DeFine | 0.0554 (Neutral) |
| Entrez Gene ID | 1846 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DUSP4 (GeneCards) |
| Number of variants in DUSP4 in this database | 2 (view all the variants) |
| Full name | dual specificity phosphatase 4 |
| Band | 8p12 |
| Other IDs | Vega: OTTHUMG00000133395 OMIM: 602747 HGNC: HGNC:3070 Ensembl: ENSG00000120875 |
| Other names | TYP, HVH2, MKP2, MKP-2 |
| Summary | The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [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; |