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mutLBSgeneDB |
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| Gene summary for PRKG1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PRKG1 |
| Gene name | protein kinase, cGMP-dependent, type I | |
| Synonyms | 1|AAT8|PKG|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha | |
| Cytomap | UCSC genome browser: 10q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001098512.2, NM_006258.3, | |
| Description | cGMP-dependent protein kinase 1protein kinase, cGMP-dependent, regulatory, type I, beta | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 176894 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000185532 | ||
| HPRD : 08910 | ||
| Vega : OTTHUMG00000018248 | ||
| Protein | UniProt: Q13976 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PRKG1 | |
| BioGPS: 5592 | ||
| Pathway | NCI Pathway Interaction Database: PRKG1 | |
| KEGG: PRKG1 | ||
| REACTOME: PRKG1 | ||
| Pathway Commons: PRKG1 | ||
| Context | iHOP: PRKG1 | |
| ligand binding site mutation search in PubMed: PRKG1 | ||
| UCL Cancer Institute: PRKG1 | ||
| 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 PRKG1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V268 | V268I | COAD | 1 | E214 | E214D | COAD | 1 | V181 | K182N | COAD | 1 | T283 | T283A | COAD | 1 | T283 | L284S | COAD | 1 | E211 | E211G | LUAD | 1 | M160 | M160I | LUSC | 1 | V181 | K182E | LUSC | 1 | T283 | T283S | UCEC | 1 | R282 | R282K | 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 PRKG1 |
| 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 | V181 | K182E | 0.22535367 | E211 | E211G | -1.4045429 | T283 | L284S | -1.3876361 | T283 | T283S | -1.0248499 | T283 | T283A | -0.98039613 | R282 | R282K | -0.60847503 | E214 | E214D | -0.4894866 | V268 | V268I | -0.41939983 | M160 | M160I | -0.34557045 | V181 | K182N | -0.25878413 |
| (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 PRKG1 from PDB |
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| Differential gene expression and gene-gene network for PRKG1 |
| 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 PRKG1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3809513 | AORTIC ANEURYSM, FAMILIAL THORACIC 8 | 1 | GeneticVariation |
| umls:C0236733 | Amphetamine-Related Disorders | 1 | Biomarker |
| umls:C0020542 | Hypertension, Pulmonary | 1 | Biomarker |
| umls:C0032927 | Precancerous Conditions | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PRKG1 |
| 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 |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PRKG1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PRKG1 |
| Multiple alignments for Q13976 in multiple species |
| LBS | AA sequence | # species | Species | A170 | VFGELAILYNC | 3 | Homo sapiens, Mus musculus, Bos taurus | A179 | NCTRTATVKTL | 3 | Homo sapiens, Mus musculus, Bos taurus | A294 | WFGEKALQGED | 3 | Homo sapiens, Mus musculus, Bos taurus | A303 | EDVRTANVIAA | 3 | Homo sapiens, Mus musculus, Bos taurus | A335 | DVSNKAYEDAE | 3 | Homo sapiens, Mus musculus, Bos taurus | C158 | EGVKLCTMGPG | 3 | Homo sapiens, Mus musculus, Bos taurus | E168 | GKVFGELAILY | 3 | Homo sapiens, Mus musculus, Bos taurus | E211 | LIKHTEYMEFL | 3 | Homo sapiens, Mus musculus, Bos taurus | E214 | HTEYMEFLKSV | 3 | Homo sapiens, Mus musculus, Bos taurus | E292 | GDWFGEKALQG | 3 | Homo sapiens, Mus musculus, Bos taurus | F166 | GPGKVFGELAI | 3 | Homo sapiens, Mus musculus, Bos taurus | F215 | TEYMEFLKSVP | 3 | Homo sapiens, Mus musculus, Bos taurus | F290 | GKGDWFGEKAL | 3 | Homo sapiens, Mus musculus, Bos taurus | G167 | PGKVFGELAIL | 3 | Homo sapiens, Mus musculus, Bos taurus | G291 | KGDWFGEKALQ | 3 | Homo sapiens, Mus musculus, Bos taurus | I249 | NGEYIIRQGAR | 3 | Homo sapiens, Mus musculus, Bos taurus | K293 | DWFGEKALQGE | 3 | Homo sapiens, Mus musculus, Bos taurus | L157 | KEGVKLCTMGP | 3 | Homo sapiens, Mus musculus, Bos taurus | L169 | KVFGELAILYN | 3 | Homo sapiens, Mus musculus, Bos taurus | L172 | GELAILYNCTR | 3 | Homo sapiens, Mus musculus, Bos taurus | L281 | EDPVFLRTLGK | 3 | Homo sapiens, Mus musculus, Bos taurus | M160 | VKLCTMGPGKV | 3 | Homo sapiens, Mus musculus, Bos taurus | N174 | LAILYNCTRTA | 3 | Homo sapiens, Mus musculus, Bos taurus | R177 | LYNCTRTATVK | 3 | Homo sapiens, Mus musculus, Bos taurus | R282 | DPVFLRTLGKG | 3 | Homo sapiens, Mus musculus, Bos taurus | R301 | QGEDVRTANVI | 3 | Homo sapiens, Mus musculus, Bos taurus | T178 | YNCTRTATVKT | 3 | Homo sapiens, Mus musculus, Bos taurus | T283 | PVFLRTLGKGD | 3 | Homo sapiens, Mus musculus, Bos taurus | T302 | GEDVRTANVIA | 3 | Homo sapiens, Mus musculus, Bos taurus | V150 | DGKVEVTKEGV | 3 | Homo sapiens, Mus musculus, Bos taurus | V181 | TRTATVKTLVN | 3 | Homo sapiens, Mus musculus, Bos taurus | V268 | KGTVNVTREDS | 1 | Homo sapiens | V268 | KGQVNVTREDS | 1 | Mus musculus | V268 | KGKVNVTREDS | 1 | Bos taurus | V305 | VRTANVIAAEA | 3 | Homo sapiens, Mus musculus, Bos taurus | V331 | GGLDDVSNKAY | 3 | Homo sapiens, Mus musculus, Bos taurus | Y71 | AEPQTYRSFHD | 3 | Homo sapiens, Mus musculus, Bos taurus |
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