| Variant ID | 888 |
|---|---|
| Entrez Gene ID | 50940 |
| Gene | PDE11A (GeneCards) |
| Location | hg19 2:178936655-178936655
hg38 2:178071928-178071928 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.178936655 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 170 |
| Amino acid changes in protein | H > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2778 |
| CADD Raw score (version 1.3) | -0.944795 (Deleterious) |
| FATHMM raw prediction score | 0.8839 (Tolerated) |
| Deleterious probability by DeFine | 0.8859 (Deleterious) |
| Entrez Gene ID | 50940 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE11A (GeneCards) |
| Number of variants in PDE11A in this database | 7 (view all the variants) |
| Full name | phosphodiesterase 11A |
| Band | 2q31.2 |
| Other IDs | Vega: OTTHUMG00000154188 OMIM: 604961 HGNC: HGNC:8773 Ensembl: ENSG00000284741 |
| Other names | PPNAD2 |
| Summary | The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |