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mutLBSgeneDB |
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| Gene summary for CHKB |
 Gene summary |
| Basic gene Info. | Gene symbol | CHKB |
| Gene name | choline kinase beta | |
| Synonyms | CHETK|CHKL|CK|CKB|CKEKB|EK|EKB|MDCMC | |
| Cytomap | UCSC genome browser: 22q13.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005198.4, NM_152253.1, | |
| Description | choline kinase-like proteincholine/ethanolamine kinaseethanolamine kinase beta | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 612395 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100288 | ||
| HPRD : 07631 | ||
| Vega : OTTHUMG00000150275 | ||
| Protein | UniProt: Q9Y259 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHKB | |
| BioGPS: 1120 | ||
| Pathway | NCI Pathway Interaction Database: CHKB | |
| KEGG: CHKB | ||
| REACTOME: CHKB | ||
| Pathway Commons: CHKB | ||
| Context | iHOP: CHKB | |
| ligand binding site mutation search in PubMed: CHKB | ||
| UCL Cancer Institute: CHKB | ||
| 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:0006646 | phosphatidylethanolamine biosynthetic process | 19915674 | GO:0006657 | CDP-choline pathway | 19915674 |
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| Ligand binding site mutations for CHKB |
| 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 | E283 | E283A | BRCA | 1 | P133 | L135R | SKCM | 1 | W353 | F351L | SKCM | 1 | E145 | R143Q | STAD | 1 | Y288 | Y286H | STAD | 1 | W353 | G354S | STAD | 1 | Y288 | T289A | STAD | 1 | D242 | D242E | STAD | 1 | Y267 | S268I | 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 CHKB |
| 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 | P133 | L135R | -1.9073184 | Y288 | T289A | -1.3619553 | E283 | E283A | -1.2691124 | Y288 | Y286H | -0.99727791 | E145 | R143Q | -0.83751975 | W353 | G354S | -0.75492861 | D242 | D242E | -0.50227177 | W353 | F351L | -0.36215879 | Y267 | S268I | -0.07060263 |
| (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 CHKB from PDB |
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| Differential gene expression and gene-gene network for CHKB |
| 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 CHKB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027404 | Narcolepsy | 4 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CHKB |
| 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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| 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 CHKB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HC7 | 2-{4-[4-(2-{DIMETHYL[2-(PHOSPHONATOOXY)ETHYL]AZANIUMYL}ACETYL)PHENYL]PHENYL}-2-HYDROXY-4,4-DIMETHYLMORPHOLIN-4-IUM | 3feg | A | D242 Y267 E283 Y288 W353 | HC7 | 2-{4-[4-(2-{DIMETHYL[2-(PHOSPHONATOOXY)ETHYL]AZANIUMYL}ACETYL)PHENYL]PHENYL}-2-HYDROXY-4,4-DIMETHYLMORPHOLIN-4-IUM | 3lq3 | A | D242 Y267 E283 Y288 W353 | ADP | ADP | 3feg | A | P133 | AMP | AMP | 3feg | A | P133 E145 | ADP | ADP | 3lq3 | A | P133 E145 | AMP | AMP | 3lq3 | A | P133 E145 |
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| Conservation information for LBS of CHKB |
| Multiple alignments for Q9Y259 in multiple species |
| LBS | AA sequence | # species | Species | D242 | VFCHNDIQEGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D242 | GFCHNDLQYGN | 1 | Arabidopsis thaliana | D264 | NLMLVDFEYSS | 2 | Mus musculus, Rattus norvegicus | D264 | SLMLVDFEYSS | 1 | Homo sapiens | D264 | AITIIDYEYSC | 1 | Arabidopsis thaliana | E145 | PEGRLEQYLPS | 2 | Mus musculus, Rattus norvegicus | E145 | PEGRLEQYIPS | 1 | Homo sapiens | E145 | GNGRIEEFLHA | 1 | Arabidopsis thaliana | E283 | GNHFCEWVYDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E283 | ANHFCEMAADY | 1 | Arabidopsis thaliana | E367 | SMSTIEFGYLE | 2 | Mus musculus, Rattus norvegicus | E367 | SMSTIEFGYLD | 1 | Homo sapiens | E367 | HVNEIDFDYME | 1 | Arabidopsis thaliana | F295 | YEEWPFYKARP | 2 | Mus musculus, Rattus norvegicus | F295 | HEEWPFYKARP | 1 | Homo sapiens | F295 | HTETPHIMDY- | 1 | Arabidopsis thaliana | F368 | MSTIEFGYLEY | 2 | Mus musculus, Rattus norvegicus | F368 | MSTIEFGYLDY | 1 | Homo sapiens | F368 | VNEIDFDYMEY | 1 | Arabidopsis thaliana | G246 | NDIQEGNILLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G246 | NDLQYGNIMM- | 1 | Arabidopsis thaliana | I148 | RLEQYLPSRPL | 2 | Mus musculus, Rattus norvegicus | I148 | RLEQYIPSRPL | 1 | Homo sapiens | I148 | RIEEFLHARTL | 1 | Arabidopsis thaliana | L102 | EPREVLLRLYG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L102 | PSRKVLVRIYG | 1 | Arabidopsis thaliana | L249 | QEGNILLLSEP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L249 | QYGNIMM---D | 1 | Arabidopsis thaliana | L82 | GLSNLLFRCSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L82 | AMTNEVFQIKW | 1 | Arabidopsis thaliana | N247 | DIQEGNILLLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N247 | DLQYGNIMM-- | 1 | Arabidopsis thaliana | P133 | ERSLGPQLYGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P133 | KHGHGPLLLGR | 1 | Arabidopsis thaliana | P152 | YLPSRPLKTQE | 2 | Mus musculus, Rattus norvegicus | P152 | YIPSRPLKTQE | 1 | Homo sapiens | P152 | FLHARTLSACD | 1 | Arabidopsis thaliana | Q146 | EGRLEQYLPSR | 2 | Mus musculus, Rattus norvegicus | Q146 | EGRLEQYIPSR | 1 | Homo sapiens | Q146 | NGRIEEFLHAR | 1 | Arabidopsis thaliana | Q244 | CHNDIQEGNIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q244 | CHNDLQYGNIM | 1 | Arabidopsis thaliana | R104 | REVLLRLYGAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R104 | RKVLVRIYG-- | 1 | Arabidopsis thaliana | W353 | ASHFFWGLWST | 2 | Mus musculus, Rattus norvegicus | W353 | ASHFFWGLWSI | 1 | Homo sapiens | W353 | ASHLIWGLWGI | 1 | Arabidopsis thaliana | W356 | FFWGLWSTLQA | 2 | Mus musculus, Rattus norvegicus | W356 | FFWGLWSILQA | 1 | Homo sapiens | W356 | LIWGLWGIISE | 1 | Arabidopsis thaliana | Y147 | GRLEQYLPSRP | 2 | Mus musculus, Rattus norvegicus | Y147 | GRLEQYIPSRP | 1 | Homo sapiens | Y147 | GRIEEFLHART | 1 | Arabidopsis thaliana | Y267 | LVDFEYSSYNY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y267 | IIDYEYSCYNP | 1 | Arabidopsis thaliana | Y288 | EWVYDYTYEEW | 2 | Mus musculus, Rattus norvegicus | Y288 | EWVYDYTHEEW | 1 | Homo sapiens | Y288 | EMAADY-HTET | 1 | Arabidopsis thaliana | Y370 | TIEFGYLEYAQ | 2 | Mus musculus, Rattus norvegicus | Y370 | TIEFGYLDYAQ | 1 | Homo sapiens | Y370 | EIDFDYMEYAR | 1 | Arabidopsis thaliana | Y373 | FGYLEYAQSRF | 2 | Mus musculus, Rattus norvegicus | Y373 | FGYLDYAQSRF | 1 | Homo sapiens | Y373 | FDYMEYARQRF | 1 | Arabidopsis thaliana |
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