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mutLBSgeneDB |
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| Gene summary for CDK6 |
 Gene summary |
| Basic gene Info. | Gene symbol | CDK6 |
| Gene name | cyclin-dependent kinase 6 | |
| Synonyms | MCPH12|PLSTIRE | |
| Cytomap | UCSC genome browser: 7q21-q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001145306.1, NM_001259.6, | |
| Description | cell division protein kinase 6serine/threonine-protein kinase PLSTIRE | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603368 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000105810 | ||
| HPRD : 04533 | ||
| Vega : OTTHUMG00000131697 | ||
| Protein | UniProt: Q00534 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CDK6 | |
| BioGPS: 1021 | ||
| Pathway | NCI Pathway Interaction Database: CDK6 | |
| KEGG: CDK6 | ||
| REACTOME: CDK6 | ||
| Pathway Commons: CDK6 | ||
| Context | iHOP: CDK6 | |
| ligand binding site mutation search in PubMed: CDK6 | ||
| UCL Cancer Institute: CDK6 | ||
| 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:0001954 | positive regulation of cell-matrix adhesion | 10205165 | GO:0003323 | type B pancreatic cell development | 20668294 | GO:0006468 | protein phosphorylation | 8114739 | GO:0010468 | regulation of gene expression | 15254224 | GO:0045638 | negative regulation of myeloid cell differentiation | 17431401 | GO:0045668 | negative regulation of osteoblast differentiation | 15254224 | GO:0045786 | negative regulation of cell cycle | 14985467 | GO:2000773 | negative regulation of cellular senescence | 17420273 |
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| Ligand binding site mutations for CDK6 |
| 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 | I19 | E18K | BLCA | 1 | L152 | T154S | STAD | 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 CDK6 |
| 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 | I19 | E18K | -1.3297098 | L152 | T154S | -0.42050429 |
| (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 CDK6 from PDB |
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| Differential gene expression and gene-gene network for CDK6 |
| 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 CDK6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003873 | Arthritis, Rheumatoid | 7 | Biomarker, GeneticVariation |
| umls:C0025149 | Medulloblastoma | 7 | AlteredExpression, Biomarker |
| umls:C0023467 | Leukemia, Myeloid, Acute | 5 | Biomarker |
| umls:C0263454 | Chloracne | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CDK6 |
| 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|investigational | DB03496 | Flavopiridol | Small molecule |  |
| Experimental | DB07379 | (2S)-2-({6-[(3-amino-5-chlorophenyl)amino]-9-isopropyl-9H-purin-2-yl}amino)-3-methylbutan-1-ol | Small molecule |  |
| Experimental | DB07795 | 3,7,3',4'-TETRAHYDROXYFLAVONE | Small molecule |  |
| Approved | DB09073 | Palbociclib | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CDK6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FSE | FISETIN | 1xo2 | B | I19 L152 | LQQ | 6-ACETYL-8-CYCLOPENTYL-5-METHYL-2-[(5-PIPERAZIN-1-YLPYRIDIN-2-YL)AMINO]PYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONE | 2euf | B | I19 L152 | AP9 | AMINOPURVALANOL | 2f2c | B | I19 L152 | 3NU | 4-(3-ISOPROPYL-1H-PYRAZOL-4-YL)-N-(1-METHYLPIPERIDIN-4-YL)PYRIMIDIN-2-AMINE | 3nup | A | I19 L152 | 3NV | 4-(5-CHLORO-3-ISOPROPYL-1H-PYRAZOL-4-YL)-N-(5-(PIPERAZIN-1-YL)PYRIDIN-2-YL)PYRIMIDIN-2-AMINE | 3nux | A | I19 L152 | 4AU | 1H-BENZIMIDAZOL-2-YL(1H-PYRROL-2-YL)METHANONE | 4aua | A | I19 L152 | 0RS | {5-[4-(DIMETHYLAMINO)PIPERIDIN-1-YL]-1H-IMIDAZO[4,5- B]PYRIDIN-2-YL}[2-(ISOQUINOLIN-4-YL)PYRIDIN-4- YL]METHANONE | 4ez5 | A | I19 L152 | 24V | 9-CYCLOPENTYL-N-(5-PIPERAZIN-1-YLPYRIDIN-2-YL)PYRIDO[4, 5]PYRROLO[1,2-D]PYRIMIDIN-2-AMINE | 4p41 | B | I19 L152 | 24V | 9-CYCLOPENTYL-N-(5-PIPERAZIN-1-YLPYRIDIN-2-YL)PYRIDO[4, 5]PYRROLO[1,2-D]PYRIMIDIN-2-AMINE | 4tth | B | I19 L152 |
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| Conservation information for LBS of CDK6 |
| Multiple alignments for Q00534 in multiple species |
| LBS | AA sequence | # species | Species | A162 | GQIKLADFGLA | 2 | Homo sapiens, Mus musculus | A162 | QTVKLADFGLS | 2 | Caenorhabditis elegans, Caenorhabditis elegans | A41 | GGRFVALKRVR | 2 | Homo sapiens, Mus musculus | A41 | GKDY-ALKQIM | 2 | Caenorhabditis elegans, Caenorhabditis elegans | D102 | VFEHVDQDLTT | 2 | Homo sapiens, Mus musculus | D102 | IMERCDWDLHT | 2 | Caenorhabditis elegans, Caenorhabditis elegans | D104 | EHVDQDLTTYL | 2 | Homo sapiens, Mus musculus | D104 | ERCDWDLHTFL | 2 | Caenorhabditis elegans, Caenorhabditis elegans | D163 | QIKLADFGLAR | 2 | Homo sapiens, Mus musculus | D163 | TVKLADFGLSK | 2 | Caenorhabditis elegans, Caenorhabditis elegans | E61 | LSTIREVAVLR | 2 | Homo sapiens, Mus musculus | E61 | QSVLREITVMK | 2 | Caenorhabditis elegans, Caenorhabditis elegans | E69 | VLRHLETFEHP | 2 | Homo sapiens, Mus musculus | E69 | VMKHLARKAHP | 2 | Caenorhabditis elegans, Caenorhabditis elegans | E72 | HLETFEHPNVV | 2 | Homo sapiens, Mus musculus | E72 | HLARKAHPNII | 2 | Caenorhabditis elegans, Caenorhabditis elegans | E99 | LTLVFEHVDQD | 2 | Homo sapiens, Mus musculus | E99 | INMIMERCDWD | 2 | Caenorhabditis elegans, Caenorhabditis elegans | F98 | KLTLVFEHVDQ | 2 | Homo sapiens, Mus musculus | F98 | KINMIMERCDW | 2 | Caenorhabditis elegans, Caenorhabditis elegans | H100 | TLVFEHVDQDL | 2 | Homo sapiens, Mus musculus | H100 | NMIMERCDWDL | 2 | Caenorhabditis elegans, Caenorhabditis elegans | I19 | -----IGEGAY | 2 | Homo sapiens, Mus musculus | I19 | FLFQALGKGAY | 2 | Caenorhabditis elegans, Caenorhabditis elegans | K43 | RFVALKRVRVQ | 2 | Homo sapiens, Mus musculus | K43 | DY-ALKQIMIS | 2 | Caenorhabditis elegans, Caenorhabditis elegans | L152 | KPQNILVTSSG | 2 | Homo sapiens, Mus musculus | L152 | KPQNILLNRDQ | 2 | Caenorhabditis elegans, Caenorhabditis elegans | N150 | DLKPQNILVTS | 2 | Homo sapiens, Mus musculus | N150 | DLKPQNILLNR | 2 | Caenorhabditis elegans, Caenorhabditis elegans | Q103 | FEHVDQDLTTY | 2 | Homo sapiens, Mus musculus | Q103 | MERCDWDLHTF | 2 | Caenorhabditis elegans, Caenorhabditis elegans | Q149 | RDLKPQNILVT | 2 | Homo sapiens, Mus musculus | Q149 | RDLKPQNILLN | 2 | Caenorhabditis elegans, Caenorhabditis elegans | T107 | DQDLTTYLDKV | 2 | Homo sapiens, Mus musculus | T107 | DWDLHTFLRNI | 2 | Caenorhabditis elegans, Caenorhabditis elegans | V101 | LVFEHVDQDLT | 2 | Homo sapiens, Mus musculus | V101 | MIMERCDWDLH | 2 | Caenorhabditis elegans, Caenorhabditis elegans | V27 | GAYGKVFKARD | 2 | Homo sapiens, Mus musculus | V27 | GAYGNVYRVRS | 2 | Caenorhabditis elegans, Caenorhabditis elegans | V77 | EHPNVVRLFDV | 2 | Homo sapiens, Mus musculus | V77 | AHPNIISLKSV | 2 | Caenorhabditis elegans, Caenorhabditis elegans |
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