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mutLBSgeneDB |
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| Gene summary for DMPK |
 Gene summary |
| Basic gene Info. | Gene symbol | DMPK |
| Gene name | dystrophia myotonica-protein kinase | |
| Synonyms | DM|DM1|DM1PK|DMK|MDPK|MT-PK | |
| Cytomap | UCSC genome browser: 19q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001081560.2, NM_001081562.2,NM_001081563.2,NM_001288764.1,NM_001288765.1, NM_001288766.1,NM_004409.4, | |
| Description | DM protein kinaseDM1 protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Amyotonin-protein kinasethymopoietin homolog | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 605377 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000104936 | ||
| HPRD : 05645 | ||
| Vega : OTTHUMG00000182334 | ||
| Protein | UniProt: Q09013 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DMPK | |
| BioGPS: 1760 | ||
| Pathway | NCI Pathway Interaction Database: DMPK | |
| KEGG: DMPK | ||
| REACTOME: DMPK | ||
| Pathway Commons: DMPK | ||
| Context | iHOP: DMPK | |
| ligand binding site mutation search in PubMed: DMPK | ||
| UCL Cancer Institute: DMPK | ||
| 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 | GO:0006468 | protein phosphorylation | 10913253 | GO:0008016 | regulation of heart contraction | 15598648 | GO:0010657 | muscle cell apoptotic process | 18729234 | GO:0050790 | regulation of catalytic activity | 11287000 |
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| Ligand binding site mutations for DMPK |
| 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 | G78 | D80N | LUAD | 1 | T132 | L133F | LUAD | 1 | V85 | L84M | 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 DMPK |
| 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 |
| (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 DMPK from PDB |
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| Differential gene expression and gene-gene network for DMPK |
| 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 DMPK |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027126 | Myotonic Dystrophy | 234 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0027125 | Myotonia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DMPK |
| 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 |
| Experimental | DB01946 | 3-[1-(3-Aminopropyl)-1h-Indol-3-Yl]-4-(1-Methyl-1h-Indol-3-Yl)-1h-Pyrrole-2,5-Dione | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DMPK go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | BI8 | 3-[1-(3-AMINOPROPYL)-1H-INDOL-3-YL]-4-(1-METHYL-1H-INDOL-3-YL)-1H-PYRROLE-2,5-DIONE | 2vd5 | B | G78 V85 T132 | BI8 | 3-[1-(3-AMINOPROPYL)-1H-INDOL-3-YL]-4-(1-METHYL-1H-INDOL-3-YL)-1H-PYRROLE-2,5-DIONE | 2vd5 | A | V85 T132 |
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| Conservation information for LBS of DMPK |
| Multiple alignments for Q09013 in multiple species |
| LBS | AA sequence | # species | Species |
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