| Variant ID | 34662 |
|---|---|
| Entrez Gene ID | 50940 |
| Gene | PDE11A (GeneCards) |
| Location | hg19 2:178879181-178879181
hg38 2:178014454-178014454 |
| Disease | Asymptomatic |
| Method | Targeted Next Generation Sequencing |
| Mutation(HGVS format) | NC_000002.11:g.178879181 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 307 |
| Amino acid changes in protein | R > * |
| Position in cDNA | 919 |
| Changes in cDNA | C > T |
| mRNA accession | NM_016953.3 |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.0039 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs76308115 |
| Variant IDs in COSMIC (version 89) | 3695004 |
| Variant occurences in COSMIC | 1(stomach)|1(large_intestine) |
| EIGEN score | 0.1868 |
| CADD Raw score (version 1.3) | 9.962704 (Deleterious) |
| FATHMM raw prediction score | 0.98394 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.033 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.489 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.971 |
| Deleterious probability by DeFine | 0.8617 (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 | 26240369.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 26240369 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 26240369 |
|---|---|
| Title | Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands |
| Journal | Proceedings of the National Academy of Sciences U S A |
| Publication date | 2015.08 |
| Disease | Asymptomatic |
| Population | Caucasian African American |
| Number of cases | Male cases: 2; Female cases: 5; cases of unknown sex: 1; |