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mutLBSgeneDB |
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| Gene summary for CDKL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CDKL1 |
| Gene name | cyclin-dependent kinase-like 1 (CDC2-related kinase) | |
| Synonyms | KKIALRE|P42 | |
| Cytomap | UCSC genome browser: 14q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001282236.1, NM_004196.4, | |
| Description | CDC2-related kinase 1cyclin-dependent kinase-like 1protein kinase p42 KKIALREserine/threonine protein kinase KKIALREserine/threonine-protein kinase KKIALRE | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603441 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100490 | ||
| HPRD : 10348 | ||
| Vega : OTTHUMG00000140290 | ||
| Protein | UniProt: Q00532 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CDKL1 | |
| BioGPS: 8814 | ||
| Pathway | NCI Pathway Interaction Database: CDKL1 | |
| KEGG: CDKL1 | ||
| REACTOME: CDKL1 | ||
| Pathway Commons: CDKL1 | ||
| Context | iHOP: CDKL1 | |
| ligand binding site mutation search in PubMed: CDKL1 | ||
| UCL Cancer Institute: CDKL1 | ||
| 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 CDKL1 |
| 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 | H89 | E91K | BLCA | 1 | Y15 | S15T | BRCA | 1 | V18 | V19A | GBM | 1 | Y15,G13 | G14E | 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 CDKL1 |
| 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 CDKL1 from PDB |
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| Differential gene expression and gene-gene network for CDKL1 |
| 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 CDKL1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CDKL1 |
| 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 CDKL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | D15 | N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE | 4agu | B | G13 V18 H89 | D15 | N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE | 4agu | C | G13 V18 H89 | D15 | N-(5-{[(2S)-4-AMINO-2-(3-CHLOROPHENYL)BUTANOYL]AMINO}-1H-INDAZOL-3-YL)BENZAMIDE | 4agu | A | G13 Y15 V18 H89 |
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| Conservation information for LBS of CDKL1 |
| Multiple alignments for Q00532 in multiple species |
| LBS | AA sequence | # species | Species | A31 | TGQIVAIKRFL | 2 | Mus musculus, Rattus norvegicus | A31 | TGQIVAIKKFL | 1 | Homo sapiens | A31 | TGQIVAIKKFV | 1 | Danio rerio | C83 | LVFEYCDHTVL | 3 | Homo sapiens, Danio rerio, Mus musculus | C83 | LVFEYCHHTVL | 1 | Rattus norvegicus | D144 | VIKLCDFGFAR | 3 | Homo sapiens, Danio rerio, Rattus norvegicus | D144 | AIKLCDFGFAR | 1 | Mus musculus | D84 | VFEYCDHTVLH | 2 | Homo sapiens, Mus musculus | D84 | VFEYCDHTVLN | 1 | Danio rerio | D84 | VFEYCHHTVLH | 1 | Rattus norvegicus | E12 | IGKIGEGSYGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E12 | ISKIGEGSYGV | 1 | Danio rerio | E81 | LHLVFEYCDHT | 3 | Homo sapiens, Danio rerio, Mus musculus | E81 | LHLVFEYCHHT | 1 | Rattus norvegicus | F80 | RLHLVFEYCDH | 2 | Homo sapiens, Mus musculus | F80 | KLHLVFEYCDH | 1 | Danio rerio | F80 | RLHLVFEYCHH | 1 | Rattus norvegicus | G11 | KIGKIGEGSYG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G11 | KISKIGEGSYG | 1 | Danio rerio | G13 | GKIGEGSYGVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G13 | SKIGEGSYGVV | 1 | Danio rerio | G16 | GEGSYGVVFKC | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | H89 | DHTVLHELDRY | 2 | Homo sapiens, Mus musculus | H89 | DHTVLNELDRY | 1 | Danio rerio | H89 | HHTVLHELDRY | 1 | Rattus norvegicus | I10 | EKIGKIGEGSY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I10 | EKISKIGEGSY | 1 | Danio rerio | K33 | QIVAIKRFLET | 2 | Mus musculus, Rattus norvegicus | K33 | QIVAIKKFLES | 1 | Homo sapiens | K33 | QIVAIKKFVES | 1 | Danio rerio | L133 | KPENILITKHS | 2 | Homo sapiens, Rattus norvegicus | L133 | KPENILITKHQ | 1 | Danio rerio | L133 | KPENILITKQS | 1 | Mus musculus | N131 | DVKPENILITK | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | T86 | EYCDHTVLHEL | 2 | Homo sapiens, Mus musculus | T86 | EYCDHTVLNEL | 1 | Danio rerio | T86 | EYCHHTVLHEL | 1 | Rattus norvegicus | V18 | GSYGVVFKCRN | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Y15 | IGEGSYGVVFK | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Y82 | HLVFEYCDHTV | 3 | Homo sapiens, Danio rerio, Mus musculus | Y82 | HLVFEYCHHTV | 1 | Rattus norvegicus |
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