mutLBSgeneDB |
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 |
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. |
Gene-centered drug-gene interaction network |
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 |
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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