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mutLBSgeneDB |
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| Gene summary for CKB |
 Gene summary |
| Basic gene Info. | Gene symbol | CKB |
| Gene name | creatine kinase, brain | |
| Synonyms | B-CK|BCK|CKBB|HEL-211|HEL-S-29 | |
| Cytomap | UCSC genome browser: 14q32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001823.4, | |
| Description | creatine kinase B chaincreatine kinase B-typecreatine kinase-Bepididymis luminal protein 211epididymis secretory protein Li 29 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 123280 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166165 | ||
| HPRD : 00423 | ||
| Vega : OTTHUMG00000171786 | ||
| Protein | UniProt: P12277 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CKB | |
| BioGPS: 1152 | ||
| Pathway | NCI Pathway Interaction Database: CKB | |
| KEGG: CKB | ||
| REACTOME: CKB | ||
| Pathway Commons: CKB | ||
| Context | iHOP: CKB | |
| ligand binding site mutation search in PubMed: CKB | ||
| UCL Cancer Institute: CKB | ||
| 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 |
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| Ligand binding site mutations for CKB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C283 | L281V | HNSC | 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 CKB |
| 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 | C283 | L281V | -1.1529471 |
| (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 CKB from PDB |
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| Differential gene expression and gene-gene network for CKB |
| 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 CKB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0001418 | Adenocarcinoma | 2 | Biomarker |
| umls:C0149925 | Small Cell Lung Carcinoma | 2 | Biomarker |
| umls:C0948089 | Acute Coronary Syndrome | 1 | Biomarker |
| umls:C0149721 | Hypertrophy, Left Ventricular | 1 | Biomarker |
| umls:C0027051 | Myocardial Infarction | 1 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CKB |
| 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 | DB00148 | Creatine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CKB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CRN | CREATINE | 3b6r | B | C283 |
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| Conservation information for LBS of CKB |
| Multiple alignments for P12277 in multiple species |
| LBS | AA sequence | # species | Species | C283 | GYILTCPSNLG | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | D335 | VGGVFDVSNAD | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | E232 | VWINEEDHLRV | 5 | Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | E232 | VWVNEEDHLRV | 1 | Homo sapiens | G294 | TGLRAGVHIKL | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | G323 | QKRGTGGVDTA | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | G324 | KRGTGGVDTAA | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | H191 | QLIDDHFLFDK | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | H296 | LRAGVHIKLPH | 4 | Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | H296 | LRAGVHIKLPN | 2 | Homo sapiens, Gallus gallus | L201 | KPVSPLLLASG | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | M240 | LRVISMQKGGN | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | R130 | YVLSSRVRTGR | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | R132 | LSSRVRTGRSI | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | R236 | EEDHLRVISMQ | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | R292 | LGTGLRAGVHI | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | R320 | LRLQKRGTGGV | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | S128 | PNYVLSSRVRT | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | S285 | ILTCPSNLGTG | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | T322 | LQKRGTGGVDT | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | T71 | HPYIMTVGCVA | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | T71 | HPYIMTVGAVA | 2 | Mus musculus, Rattus norvegicus | T71 | HPFIMTVGCVA | 1 | Gallus gallus | V295 | GLRAGVHIKLP | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | V325 | RGTGGVDTAAV | 6 | Homo sapiens, Gallus gallus, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus | V72 | PYIMTVGCVAG | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | V72 | PYIMTVGAVAG | 2 | Mus musculus, Rattus norvegicus | V72 | PFIMTVGCVAG | 1 | Gallus gallus |
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