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mutLBSgeneDB |
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| Gene summary for PDE8A |
 Gene summary |
| Basic gene Info. | Gene symbol | PDE8A |
| Gene name | phosphodiesterase 8A | |
| Synonyms | HsT19550 | |
| Cytomap | UCSC genome browser: 15q25.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001243137.1, NM_002605.2,NM_173454.1,NM_173455.1,NM_173456.1, NM_173457.1, | |
| Description | cAMP-specific cyclic nucleotide phosphodiesterase 8Ahigh affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602972 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000073417 | ||
| HPRD : 09114 | ||
| Vega : OTTHUMG00000148670 | ||
| Protein | UniProt: O60658 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PDE8A | |
| BioGPS: 5151 | ||
| Pathway | NCI Pathway Interaction Database: PDE8A | |
| KEGG: PDE8A | ||
| REACTOME: PDE8A | ||
| Pathway Commons: PDE8A | ||
| Context | iHOP: PDE8A | |
| ligand binding site mutation search in PubMed: PDE8A | ||
| UCL Cancer Institute: PDE8A | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for PDE8A |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D726 | A725V | COAD | 1 | I744,Y748 | E746A | OV | 1 | M670 | T668I | UCEC | 1 | D726 | V727A | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for PDE8A |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | D726 | V727A | -1.1746547 | M670 | T668I | -0.77825074 | D726 | A725V | -0.72291843 | I744 | E746A | -0.34450805 | Y748 | E746A | -0.34450805 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for PDE8A from PDB |
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| Differential gene expression and gene-gene network for PDE8A |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for PDE8A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PDE8A |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00920 | Ketotifen | Small molecule |  |
| Experimental | DB07954 | 3-isobutyl-1-methyl-7H-xanthine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PDE8A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3ecm | A | D726 | ZN | ZINC(2+) | 3ecn | A | D726 | ZN | ZINC(2+) | 3ecn | B | D726 | IBM | 3-ISOBUTYL-1-METHYL-9H-XANTHINE | 3ecn | A | M670 I744 Y748 | IBM | 3-ISOBUTYL-1-METHYL-9H-XANTHINE | 3ecn | B | M670 I744 Y748 |
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| Conservation information for LBS of PDE8A |
| Multiple alignments for O60658 in multiple species |
| LBS | AA sequence | # species | Species | D597 | AATIHDVDHPG | 1 | Homo sapiens | D597 | AAAVHDLDHPG | 1 | Caenorhabditis elegans | D597 | AATVHDVDHPG | 1 | Mus musculus | D726 | LIKCADVSNPC | 1 | Homo sapiens | D726 | -VKCADISNPA | 1 | Caenorhabditis elegans | D726 | MIKCADVSNPC | 1 | Mus musculus | E626 | DTAVLESHHAA | 1 | Homo sapiens | E626 | DNSILENHHIA | 1 | Caenorhabditis elegans | E626 | DTAVLESHHVA | 1 | Mus musculus | F767 | VVMPVFDRNTC | 2 | Homo sapiens, Mus musculus | F767 | VTMEVFDRNTC | 1 | Caenorhabditis elegans | F781 | KSQISFIDYFI | 2 | Homo sapiens, Mus musculus | F781 | ITQCGFIDMFA | 1 | Caenorhabditis elegans | F785 | SFIDYFITDMF | 2 | Homo sapiens, Mus musculus | F785 | GFIDMFAREAF | 1 | Caenorhabditis elegans | H560 | YHNSTHSADVL | 1 | Homo sapiens | H560 | YHNATHAADVL | 1 | Caenorhabditis elegans | H560 | YHNSTHAADVL | 1 | Mus musculus | H596 | IAATIHDVDHP | 1 | Homo sapiens | H596 | LAAAVHDLDHP | 1 | Caenorhabditis elegans | H596 | IAATVHDVDHP | 1 | Mus musculus | I744 | EWAARISEEYF | 2 | Homo sapiens, Mus musculus | I744 | RWAHRIVEEYF | 1 | Caenorhabditis elegans | M670 | VLATEMTKHFE | 2 | Homo sapiens, Mus musculus | M670 | VLATDISRHFE | 1 | Caenorhabditis elegans | Q778 | SIPKSQISFID | 2 | Homo sapiens, Mus musculus | Q778 | NVPITQCGFID | 1 | Caenorhabditis elegans | Y748 | RISEEYFSQTD | 2 | Homo sapiens, Mus musculus | Y748 | RIVEEYFEQTR | 1 | Caenorhabditis elegans |
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