| Variant ID | 8697 |
|---|---|
| Entrez Gene ID | 5144 |
| Gene | PDE4D (GeneCards) |
| Location | hg19 5:58996984-58996984
hg38 5:59701158-59701158 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.58996984 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 | -0.3092 |
| CADD Raw score (version 1.3) | 0.577201 (Deleterious) |
| FATHMM raw prediction score | 0.09002 (Tolerated) |
| Deleterious probability by DeFine | 0.5483 (Deleterious) |
| Entrez Gene ID | 5144 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE4D (GeneCards) |
| Number of variants in PDE4D in this database | 26 (view all the variants) |
| Full name | phosphodiesterase 4D |
| Band | 5q11.2-q12.1 |
| Other IDs | Vega: OTTHUMG00000162218 OMIM: 600129 HGNC: HGNC:8783 Ensembl: ENSG00000113448 |
| Other names | DPDE3, PDE43, STRK1, ACRDYS2, HSPDE4D, PDE4DN2 |
| Summary | This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009] |
| 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; |