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mutLBSgeneDB |
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| Gene summary for ADK |
 Gene summary |
| Basic gene Info. | Gene symbol | ADK |
| Gene name | adenosine kinase | |
| Synonyms | AK | |
| Cytomap | UCSC genome browser: 10q22|10q11-q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001123.3, NM_001202449.1,NM_001202450.1,NM_006721.3, | |
| Description | adenosine 5'-phosphotransferase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 102750 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000156110 | ||
| HPRD : 00039 | ||
| Vega : OTTHUMG00000018506 | ||
| Protein | UniProt: P55263 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADK | |
| BioGPS: 132 | ||
| Pathway | NCI Pathway Interaction Database: ADK | |
| KEGG: ADK | ||
| REACTOME: ADK | ||
| Pathway Commons: ADK | ||
| Context | iHOP: ADK | |
| ligand binding site mutation search in PubMed: ADK | ||
| UCL Cancer Institute: ADK | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for ADK. | 1. "Thach TT, Luong TT, Lee S, Rhee DK. Adenylate kinase from Streptococcus pneumoniae is essential for growth through its catalytic activity. FEBS Open Bio. 2014 Jul 8;4:672-82. doi: 10.1016/j.fob.2014.07.002. eCollection 2014. PubMed PMID: 25180151; PubMed Central PMCID: PMC4141199." 25180151 | |
| 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 ADK |
| 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 | V301 | V301A | COAD | 3 | G81 | G81S | SKCM | 1 | S82 | S82A | STAD | 1 | V301 | F299C | 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 ADK |
| 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 | V301 | V301A | -1.0579437 | V301 | F299C | -0.95113634 | G81 | G81S | -0.55088339 | S82 | S82A | -0.26219483 |
| (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 ADK from PDB |
| PDB ID | PDB title | PDB structure | 1BX4 | STRUCTURE OF HUMAN ADENOSINE KINASE AT 1.50 ANGSTROMS |  |
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| Differential gene expression and gene-gene network for ADK |
| 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 ADK |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003130 | Anoxia | 2 | AlteredExpression, Biomarker |
| umls:C3280381 | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY | 1 | GeneticVariation |
| umls:C3714756 | Intellectual Disability | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADK |
| 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|nutraceutical | DB00131 | Adenosine monophosphate | Small molecule |  |
| Approved | DB00811 | Ribavirin | Small molecule |  |
| Experimental | DB07173 | 7-(5-DEOXY-BETA-D-RIBOFURANOSYL)-5-IODO-7H-PYRROLO[2,3-D]PYRIMIDIN-4-AMINE | Small molecule |  |
| Experimental | DB07280 | 5-[4-(DIMETHYLAMINO)PHENYL]-6-[(6-MORPHOLIN-4-YLPYRIDIN-3-YL)ETHYNYL]PYRIMIDIN-4-AMINE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ADK 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 ADK |
| Multiple alignments for P55263 in multiple species |
| LBS | AA sequence | # species | Species | A153 | ERSLIANLSAA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | A153 | NRSLVANLAAA | 2 | Mus musculus, Rattus norvegicus | A153 | NRSLIANLAAA | 1 | Homo sapiens | A185 | KFYYIAGFFLT | 2 | Arabidopsis thaliana, Arabidopsis thaliana | A185 | RVYYIAGFFLT | 2 | Mus musculus, Rattus norvegicus | A185 | RVCYIAGFFLT | 1 | Homo sapiens | A315 | VDTNGAGDAFV | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Rattus norvegicus | A315 | IDTNGAGDAFV | 2 | Homo sapiens, Mus musculus | A344 | AGCYASNVVIQ | 2 | Arabidopsis thaliana, Arabidopsis thaliana | A344 | AGHYAASVIIR | 2 | Mus musculus, Rattus norvegicus | A344 | AGHYAASIIIR | 1 | Homo sapiens | C140 | QPTGTCAACIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C140 | APTGTCGVCVV | 1 | Arabidopsis thaliana | C140 | TPTGTCGVCVL | 1 | Arabidopsis thaliana | D147 | ACITGGNRSLV | 2 | Mus musculus, Rattus norvegicus | D147 | ACITGDNRSLI | 1 | Homo sapiens | D147 | VCVVGGERSLI | 1 | Arabidopsis thaliana | D147 | VCVLGGERSLI | 1 | Arabidopsis thaliana | D303 | KYPVIPLPKEK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D303 | AFPVLDQNQEE | 2 | Mus musculus, Rattus norvegicus | D303 | AFAVLDQDQKE | 1 | Homo sapiens | D317 | TNGAGDAFVGG | 5 | Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | D35 | GNPLLDISAVV | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | D35 | GNPLLDVSAVV | 1 | Arabidopsis thaliana | F187 | YYIAGFFLTVS | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | F187 | CYIAGFFLTVS | 1 | Homo sapiens | F218 | NLSAPFICEFF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | F218 | NLSAPFISQFF | 2 | Mus musculus, Rattus norvegicus | F218 | NLSAPFISQFY | 1 | Homo sapiens | G284 | VIFTQGRDDTI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G284 | TVITQGADPVV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | G30 | ILLGMGNPLLD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | G30 | VLFGMGNPLLD | 2 | Mus musculus, Rattus norvegicus | G30 | ILFGMGNPLLD | 1 | Homo sapiens | G314 | IIDTNGAGDAF | 2 | Homo sapiens, Mus musculus | G314 | LVDTNGAGDAF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | G314 | IVDTNGAGDAF | 1 | Rattus norvegicus | G316 | DTNGAGDAFVG | 5 | Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | G80 | VEYHAGGSTQN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G80 | VEYIAGGATQN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | G81 | EYHAGGSTQNS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G81 | EYIAGGATQNS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H341 | CIRAGHYAASV | 2 | Mus musculus, Rattus norvegicus | H341 | CIRAGHYAASI | 1 | Homo sapiens | H341 | CVKAGCYASNV | 1 | Arabidopsis thaliana | H341 | CVRAGCYASNV | 1 | Arabidopsis thaliana | I25 | ALSENVLFGMG | 2 | Mus musculus, Rattus norvegicus | I25 | ALRENILFGMG | 1 | Homo sapiens | I25 | --YDGILLGMG | 1 | Arabidopsis thaliana | I25 | --FDGILLGMG | 1 | Arabidopsis thaliana | I309 | LPKEKLVDTNG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | I309 | QDQKEIIDTNG | 1 | Homo sapiens | I309 | QNQEEIIDTNG | 1 | Mus musculus | I309 | QNQEEIVDTNG | 1 | Rattus norvegicus | I348 | ASNVVIQRSGC | 2 | Arabidopsis thaliana, Arabidopsis thaliana | I348 | AASVIIRRTGC | 2 | Mus musculus, Rattus norvegicus | I348 | AASIIIRRTGC | 1 | Homo sapiens | I56 | KPNDQILAEDK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I56 | KLNNAILAEDK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L151 | GGERSLIANLS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L151 | GGNRSLVANLA | 2 | Mus musculus, Rattus norvegicus | L151 | GDNRSLIANLA | 1 | Homo sapiens | L155 | SLIANLSAANC | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L155 | SLVANLAAANC | 2 | Mus musculus, Rattus norvegicus | L155 | SLIANLAAANC | 1 | Homo sapiens | L33 | GMGNPLLDISA | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | L33 | GMGNPLLDVSA | 1 | Arabidopsis thaliana | L57 | PNDQILAEDKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L57 | LNNAILAEDKH | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N148 | CITGGNRSLVA | 2 | Mus musculus, Rattus norvegicus | N148 | CITGDNRSLIA | 1 | Homo sapiens | N148 | CVVGGERSLIA | 1 | Arabidopsis thaliana | N148 | CVLGGERSLIA | 1 | Arabidopsis thaliana | N31 | LFGMGNPLLDI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N31 | LLGMGNPLLDI | 1 | Arabidopsis thaliana | N31 | LLGMGNPLLDV | 1 | Arabidopsis thaliana | N313 | EIIDTNGAGDA | 2 | Homo sapiens, Mus musculus | N313 | KLVDTNGAGDA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N313 | EIVDTNGAGDA | 1 | Rattus norvegicus | N85 | GGATQNSIKVA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N85 | GGSTQNSMKVA | 2 | Mus musculus, Rattus norvegicus | N85 | GGSTQNSIKVA | 1 | Homo sapiens | Q306 | VIPLPKEKLVD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q306 | VLDQDQKEIID | 1 | Homo sapiens | Q306 | VLDQNQEEIID | 1 | Mus musculus | Q306 | VLDQNQEEIVD | 1 | Rattus norvegicus | Q55 | LKPNDQILAED | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q55 | IKLNNAILAED | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R285 | VITQGADPVVV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R285 | IFTQGRDDTIV | 2 | Mus musculus, Rattus norvegicus | R285 | IFTQGRDDTIM | 1 | Homo sapiens | S82 | YIAGGATQNSI | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S82 | YHAGGSTQNSM | 2 | Mus musculus, Rattus norvegicus | S82 | YHAGGSTQNSI | 1 | Homo sapiens | T190 | AGFFLTVSPES | 5 | Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | T282 | RTTVITQGADP | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T282 | RTVIFTQGRDD | 2 | Mus musculus, Rattus norvegicus | T282 | RIVIFTQGRDD | 1 | Homo sapiens | T312 | EKLVDTNGAGD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T312 | KEIIDTNGAGD | 1 | Homo sapiens | T312 | EEIIDTNGAGD | 1 | Mus musculus | T312 | EEIVDTNGAGD | 1 | Rattus norvegicus | T83 | IAGGATQNSIK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T83 | HAGGSTQNSMK | 2 | Mus musculus, Rattus norvegicus | T83 | HAGGSTQNSIK | 1 | Homo sapiens | V301 | VKKYPVIPLPK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | V301 | VTAFPVLDQNQ | 2 | Mus musculus, Rattus norvegicus | V301 | VTAFAVLDQDQ | 1 | Homo sapiens | Y223 | FICEFFKDVQE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Y223 | FISQFFKEALM | 2 | Mus musculus, Rattus norvegicus | Y223 | FISQFYKESLM | 1 | Homo sapiens |
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