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mutLBSgeneDB |
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| Gene summary for CDKL5 |
 Gene summary |
| Basic gene Info. | Gene symbol | CDKL5 |
| Gene name | cyclin-dependent kinase-like 5 | |
| Synonyms | EIEE2|ISSX|STK9 | |
| Cytomap | UCSC genome browser: Xp22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001037343.1, NM_003159.2, | |
| Description | cyclin dependent kinase 5 transcriptserine/threonine kinase 9serine/threonine-protein kinase 9 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300203 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000008086 | ||
| HPRD : 02190 | ||
| Vega : OTTHUMG00000021214 | ||
| Protein | UniProt: O76039 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CDKL5 | |
| BioGPS: 6792 | ||
| Pathway | NCI Pathway Interaction Database: CDKL5 | |
| KEGG: CDKL5 | ||
| REACTOME: CDKL5 | ||
| Pathway Commons: CDKL5 | ||
| Context | iHOP: CDKL5 | |
| ligand binding site mutation search in PubMed: CDKL5 | ||
| UCL Cancer Institute: CDKL5 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0046777 | protein autophosphorylation | 16935860 |
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| Ligand binding site mutations for CDKL5 |
| 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 | E98 | E98K | GBM | 1 | V92,K94 | E93K | LUAD | 1 | C152 | L151Q | LUAD | 1 | Y24 | V26G | STAD | 1 | L142 | L141I | 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 CDKL5 |
| 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 | C152 | L151Q | -1.562275 | V92 | E93K | -1.1277787 | K94 | E93K | -1.1277787 | Y24 | V26G | -0.9955312 | L142 | L141I | -0.77077278 | E98 | E98K | -0.50194887 |
| (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 CDKL5 from PDB |
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| Differential gene expression and gene-gene network for CDKL5 |
| 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 CDKL5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0035372 | Rett Syndrome | 59 | Biomarker, GeneticVariation |
| umls:C0036572 | Seizures | 35 | Biomarker, GeneticVariation |
| umls:C1839333 | Epileptic Encephalopathy, Early Infantile, 2 | 10 | Biomarker, GeneticVariation |
| umls:C0162635 | Angelman Syndrome | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CDKL5 |
| 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 CDKL5 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 38R | [4-({4-[(3-CYCLOPENTYL-1H-PYRAZOL-5-YL)AMINO] PYRIMIDIN-2-YL}AMINO)PHENYL]ACETONITRILE | 4bgq | A | Y24 V92 K94 E98 L142 C152 |
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| Conservation information for LBS of CDKL5 |
| Multiple alignments for O76039 in multiple species |
| LBS | AA sequence | # species | Species |
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