mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CHKA
Gene summary
Basic gene Info.Gene symbolCHKA
Gene namecholine kinase alpha
SynonymsCHK|CK|CKI|EK
CytomapUCSC genome browser: 11q13.2
Type of geneprotein-coding
RefGenesNM_001277.2,
NM_212469.1,
DescriptionCHETK-alphaethanolamine kinase
Modification date20141207
dbXrefs MIM : 118491
HGNC : HGNC
Ensembl : ENSG00000110721
HPRD : 00327
Vega : OTTHUMG00000167424
ProteinUniProt: P35790
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CHKA
BioGPS: 1119
PathwayNCI Pathway Interaction Database: CHKA
KEGG: CHKA
REACTOME: CHKA
Pathway Commons: CHKA
ContextiHOP: CHKA
ligand binding site mutation search in PubMed: CHKA
UCL Cancer Institute: CHKA
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006646phosphatidylethanolamine biosynthetic process19915674
GO:0006656phosphatidylcholine biosynthetic process19915674
GO:0006657CDP-choline pathway19915674


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Ligand binding site mutations for CHKA
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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R270E268KCOAD1
L144L144FLUAD1
F361P360LLUSC1
Y440A441TSTAD1
E206E206DUCEC1
A428K429NUCEC1
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 CHKA
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.
LBSAAchange of nsSNVRelative stability change
R270E268K-1.2167447
E206E206D-1.0979802
Y440A441T-0.8739351
A428K429N-0.86275775
F361P360L-0.7772068
L144L144F-0.68897155
(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 CHKA from PDB

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Differential gene expression and gene-gene network for CHKA
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)
* Left PPI network was created from samples with mutations in the LBS of CHKA and the right PPI network was created from samples without mutations in the LBS of CHKA. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CHKA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0080178Spinal Dysraphism1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for CHKA
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CHKA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP2ckpAE206
QMQ1-(4-(4-(4-((6-AMINO-9H-PURIN-9-YL)METHYL) PHENYL)BUTYL)BENZYL)-4- (DIMETHYLAMINO) PYRIDINIUM3zm9AE206
5RA5-[(4-METHYL-1,4-DIAZEPAN-1-YL)METHYL]-2-[4-[(4-METHYL- 1,4-DIAZEPAN-1-YL)METHYL]PHENYL]BENZENECARBONITRILE5eqyAF361
HC6(2S,2'S)-2,2'-BIPHENYL-4,4'-DIYLBIS(2-HYDROXY-4,4-DIMETHYLMORPHOLIN-4-IUM)3f2rAF361 Y440
HC6(2S,2'S)-2,2'-BIPHENYL-4,4'-DIYLBIS(2-HYDROXY-4,4-DIMETHYLMORPHOLIN-4-IUM)3f2rBF361 Y440
HC6(2S,2'S)-2,2'-BIPHENYL-4,4'-DIYLBIS(2-HYDROXY-4,4-DIMETHYLMORPHOLIN-4-IUM)3g15AF361 Y440
HC6(2S,2'S)-2,2'-BIPHENYL-4,4'-DIYLBIS(2-HYDROXY-4,4-DIMETHYLMORPHOLIN-4-IUM)3g15BF361 Y440
ADPADP3g15AL144
ADPADP3g15BL144
A4V3-BENZYLADENINE4br3BL144
A4V3-BENZYLADENINE4br3AL144 E206
QMQ1-(4-(4-(4-((6-AMINO-9H-PURIN-9-YL)METHYL) PHENYL)BUTYL)BENZYL)-4- (DIMETHYLAMINO) PYRIDINIUM3zm9BL144 Y440
G8V1-BENZYL-4-(DIMETHYLAMINO)PYRIDINIUM4cg8AR270 A428
PCPHOSPHOCHOLINE2ckqAY440
PCPHOSPHOCHOLINE2ckqBY440
0H7(3R)-1-AZABICYCLO[2.2.2]OCT-3-YL[BIS(5-CHLOROTHIOPHEN- 2-YL)]METHANOL4da5AY440
0H7(3R)-1-AZABICYCLO[2.2.2]OCT-3-YL[BIS(5-CHLOROTHIOPHEN- 2-YL)]METHANOL4da5BY440
U851-((4'-((6-AMINO-3H-PURIN-3-YL)METHYL) BIPHENYL-4-YL)METHYL)-4-(DIMETHYLAMINO) PYRIDINIUM4br3AY440
U851-((4'-((6-AMINO-3H-PURIN-3-YL)METHYL) BIPHENYL-4-YL)METHYL)-4-(DIMETHYLAMINO) PYRIDINIUM4br3BY440
G8S4-[(4-CHLOROPHENYL)(METHYL)AMINO]-1-{4-[4-(4- {[4-(DIMETHYLAMINO)PYRIDINIUM-1-YL]METHYL} PHENYL)BUTYL]BENZYL}PYRIDINIUM4cg8AY440
GQGN,N-DIMETHYL-1-[(4-PHENYLPHENYL)METHYL] PYRIDIN-1-IUM-4-AMINE4cg9AY440
QLWN,N-DIMETHYL-1-[[4-(2-PHENYLETHYL)PHENYL] METHYL]PYRIDIN-1-IUM-4-AMINE4cgaAY440
JH51-BENZYL-4-(BENZYLAMINO)-1H-1,2,4-TRIAZOL-4- IUM5afvAY440
JH51-BENZYL-4-(BENZYLAMINO)-1H-1,2,4-TRIAZOL-4- IUM5afvBY440
5R8[4-[(4-METHYL-1,4-DIAZEPAN-1-YL) METHYL]PHENYL]METHANAMINE5eqeAY440
5R8[4-[(4-METHYL-1,4-DIAZEPAN-1-YL) METHYL]PHENYL]METHANAMINE5eqeBY440
5R96-[(4-METHYL-1,4-DIAZEPAN-1-YL)METHYL]QUINOLINE5eqpAY440
5R96-[(4-METHYL-1,4-DIAZEPAN-1-YL)METHYL]QUINOLINE5eqpBY440


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Conservation information for LBS of CHKA
Multiple alignments for P35790 in multiple species
LBSAA sequence# speciesSpecies
A428WSIVQAKISSI3Homo sapiens, Mus musculus, Rattus norvegicus
A428WGIISGYVNKI1Arabidopsis thaliana
A428WGIISGHVNKI1Arabidopsis thaliana
A428WGLLQVELSPV1Caenorhabditis elegans
D306VFCHNDCQEGN3Homo sapiens, Mus musculus, Rattus norvegicus
D306GFCHNDLQYGN2Arabidopsis thaliana, Arabidopsis thaliana
D306TFCHNDLQEGN1Caenorhabditis elegans
D330KLMLIDFEYSS3Homo sapiens, Mus musculus, Rattus norvegicus
D330AITIIDYEYAS1Arabidopsis thaliana
D330AITIIDYEYSS1Arabidopsis thaliana
D330RLVLIDFEYAS1Caenorhabditis elegans
E206PQGRLEQFIPS3Homo sapiens, Mus musculus, Rattus norvegicus
E206AGGRVEEFIHA1Arabidopsis thaliana
E206SDGRLEEFIHA1Arabidopsis thaliana
E206SGGRLEEYIPS1Caenorhabditis elegans
E332MLIDFEYSSYN3Homo sapiens, Mus musculus, Rattus norvegicus
E332TIIDYEYASYN1Arabidopsis thaliana
E332TIIDYEYSSFN1Arabidopsis thaliana
E332VLIDFEYASYN1Caenorhabditis elegans
E349GNHFCEWMYDY3Homo sapiens, Mus musculus, Rattus norvegicus
E349ANHFCEMAADY1Arabidopsis thaliana
E349ANHFCEMAANY1Arabidopsis thaliana
E349ANHFIEWTIDY1Caenorhabditis elegans
E434KISSIEFGYME2Mus musculus, Rattus norvegicus
E434KISSIEFGYMD1Homo sapiens
E434YVNKIEFDYIE1Arabidopsis thaliana
E434HVNKIEFDYME1Arabidopsis thaliana
E434ELSPVGFGFAD1Caenorhabditis elegans
F208GRLEQFIPSRR3Homo sapiens, Mus musculus, Rattus norvegicus
F208GRVEEFIHART1Arabidopsis thaliana
F208GRLEEFIHART1Arabidopsis thaliana
F208GRLEEYIPSRP1Caenorhabditis elegans
F361YEKYPFFRANI3Homo sapiens, Mus musculus, Rattus norvegicus
F361SNTPHILDYTL1Arabidopsis thaliana
F361SDTPHVLDYTL1Arabidopsis thaliana
F361IDEAPFYKIQT1Caenorhabditis elegans
F435ISSIEFGYMEY2Mus musculus, Rattus norvegicus
F435ISSIEFGYMDY1Homo sapiens
F435VNKIEFDYIEY1Arabidopsis thaliana
F435VNKIEFDYMEY1Arabidopsis thaliana
F435LSPVGFGFADY1Caenorhabditis elegans
G119SVIRGGLSNML3Homo sapiens, Mus musculus, Rattus norvegicus
G119KPMKGAMTNEV1Arabidopsis thaliana
G119VPLKGAMTNEV1Arabidopsis thaliana
G119SRIKGGMSNML1Caenorhabditis elegans
G310NDCQEGNILLL3Homo sapiens, Mus musculus, Rattus norvegicus
G310NDLQYGNIMI-1Arabidopsis thaliana
G310NDLQYGNVMI-1Arabidopsis thaliana
G310NDLQEGNILLP1Caenorhabditis elegans
I116FHISVIRGGLS3Homo sapiens, Mus musculus, Rattus norvegicus
I116LEVKPMKGAMT1Arabidopsis thaliana
I116LEVVPLKGAMT1Arabidopsis thaliana
I116LRISRIKGGMS1Caenorhabditis elegans
I209RLEQFIPSRRL3Homo sapiens, Mus musculus, Rattus norvegicus
I209RVEEFIHARTL1Arabidopsis thaliana
I209RLEEFIHARTL1Arabidopsis thaliana
I209RLEEYIPSRPL1Caenorhabditis elegans
I329QKLMLIDFEYS2Homo sapiens, Rattus norvegicus
I329NAITIIDYEYA1Arabidopsis thaliana
I329NAITIIDYEYS1Arabidopsis thaliana
I329PRLVLIDFEYA1Caenorhabditis elegans
I329RKLMLIDFEYS1Mus musculus
I433AKISSIEFGYM3Homo sapiens, Mus musculus, Rattus norvegicus
I433GYVNKIEFDYI1Arabidopsis thaliana
I433GHVNKIEFDYM1Arabidopsis thaliana
I433VELSPVGFGFA1Caenorhabditis elegans
L120VIRGGLSNMLF3Homo sapiens, Mus musculus, Rattus norvegicus
L120PMKGAMTNEVF1Arabidopsis thaliana
L120PLKGAMTNEVY1Arabidopsis thaliana
L120RIKGGMSNMLF1Caenorhabditis elegans
L124GLSNMLFQCSL3Homo sapiens, Mus musculus, Rattus norvegicus
L124AMTNEVFMVSW1Arabidopsis thaliana
L124AMTNEVYQINW1Arabidopsis thaliana
L124GMSNMLFLCRL1Caenorhabditis elegans
L144EPRKVLLRLYG3Homo sapiens, Mus musculus, Rattus norvegicus
L144-CRKLLVRVYG1Arabidopsis thaliana
L144VHRKVLVRIYG1Arabidopsis thaliana
L144EPNKVLLRVY-1Caenorhabditis elegans
L313QEGNILLLEGQ2Mus musculus, Rattus norvegicus
L313QEGNILLLEGR1Homo sapiens
L313QYGNIMI----1Arabidopsis thaliana
L313QYGNVMI----1Arabidopsis thaliana
L313QEGNILLPKAS1Caenorhabditis elegans
L419LASHFLWGLWS3Homo sapiens, Mus musculus, Rattus norvegicus
L419LASHLFWGLWG1Arabidopsis thaliana
L419LANHIFWGLWG1Arabidopsis thaliana
L419PVSHFFWGVWG1Caenorhabditis elegans
N122RGGLSNMLFQC3Homo sapiens, Mus musculus, Rattus norvegicus
N122KGAMTNEVFMV1Arabidopsis thaliana
N122KGAMTNEVYQI1Arabidopsis thaliana
N122KGGMSNMLFLC1Caenorhabditis elegans
N305VVFCHNDCQEG3Homo sapiens, Mus musculus, Rattus norvegicus
N305IGFCHNDLQYG2Arabidopsis thaliana, Arabidopsis thaliana
N305VTFCHNDLQEG1Caenorhabditis elegans
N311DCQEGNILLLE3Homo sapiens, Mus musculus, Rattus norvegicus
N311DLQYGNIMI--1Arabidopsis thaliana
N311DLQYGNVMI--1Arabidopsis thaliana
N311DLQEGNILLPK1Caenorhabditis elegans
P194ERSLGPKLYGI2Homo sapiens, Rattus norvegicus
P194RHGHGPTLLGR1Arabidopsis thaliana
P194HHGYGPKLLGR1Arabidopsis thaliana
P194ERHLGPKLYGI1Caenorhabditis elegans
P194ERSLGPKLFGI1Mus musculus
Q207QGRLEQFIPSR3Homo sapiens, Mus musculus, Rattus norvegicus
Q207GGRVEEFIHAR1Arabidopsis thaliana
Q207DGRLEEFIHAR1Arabidopsis thaliana
Q207GGRLEEYIPSR1Caenorhabditis elegans
Q308CHNDCQEGNIL3Homo sapiens, Mus musculus, Rattus norvegicus
Q308CHNDLQYGNIM1Arabidopsis thaliana
Q308CHNDLQYGNVM1Arabidopsis thaliana
Q308CHNDLQEGNIL1Caenorhabditis elegans
R117HISVIRGGLSN3Homo sapiens, Mus musculus, Rattus norvegicus
R117EVKPMKGAMTN1Arabidopsis thaliana
R117EVVPLKGAMTN1Arabidopsis thaliana
R117RISRIKGGMSN1Caenorhabditis elegans
R146RKVLLRLYGAI3Homo sapiens, Mus musculus, Rattus norvegicus
R146RKLLVRVYGEG1Arabidopsis thaliana
R146RKVLVRIYGDG1Arabidopsis thaliana
R146NKVLLRVY---1Caenorhabditis elegans
R212QFIPSRRLDTE3Homo sapiens, Mus musculus, Rattus norvegicus
R212EFIHARTLSAT1Arabidopsis thaliana
R212EFIHARTLSAD1Arabidopsis thaliana
R212EYIPSRPLSCH1Caenorhabditis elegans
R213FIPSRRLDTEE3Homo sapiens, Mus musculus, Rattus norvegicus
R213FIHARTLSATD1Arabidopsis thaliana
R213FIHARTLSADD1Arabidopsis thaliana
R213YIPSRPLSCHE1Caenorhabditis elegans
R270FSREARVQQLH2Mus musculus, Rattus norvegicus
R270FTEESRIKKLH1Homo sapiens
R270SNEHSTEFGLD1Arabidopsis thaliana
R270SPIEMDKYRLE1Arabidopsis thaliana
R270LPEECGVSSVN1Caenorhabditis elegans
S121IRGGLSNMLFQ3Homo sapiens, Mus musculus, Rattus norvegicus
S121MKGAMTNEVFM1Arabidopsis thaliana
S121LKGAMTNEVYQ1Arabidopsis thaliana
S121IKGGMSNMLFL1Caenorhabditis elegans
S211EQFIPSRRLDT3Homo sapiens, Mus musculus, Rattus norvegicus
S211EEFIHARTLSA2Arabidopsis thaliana, Arabidopsis thaliana
S211EEYIPSRPLSC1Caenorhabditis elegans
S431VQAKISSIEFG3Homo sapiens, Mus musculus, Rattus norvegicus
S431ISGYVNKIEFD1Arabidopsis thaliana
S431ISGHVNKIEFD1Arabidopsis thaliana
S431LQVELSPVGFG1Caenorhabditis elegans
T252KWLFGTMEKYL3Homo sapiens, Mus musculus, Rattus norvegicus
T252MLIWDRMRTWV1Arabidopsis thaliana
T252VLLWERLRTWL1Arabidopsis thaliana
T252DYLCEALQRWL1Caenorhabditis elegans
W420ASHFLWGLWSI3Homo sapiens, Mus musculus, Rattus norvegicus
W420ASHLFWGLWGI1Arabidopsis thaliana
W420ANHIFWGLWGI1Arabidopsis thaliana
W420VSHFFWGVWGL1Caenorhabditis elegans
W423FLWGLWSIVQA3Homo sapiens, Mus musculus, Rattus norvegicus
W423LFWGLWGIISG1Arabidopsis thaliana
W423IFWGLWGIISG1Arabidopsis thaliana
W423FFWGVWGLLQV1Caenorhabditis elegans
Y256GTMEKYLNQV-2Mus musculus, Rattus norvegicus
Y256GTMEKYLKEV-1Homo sapiens
Y256DRMRTWVGQA-1Arabidopsis thaliana
Y256ERLRTWLKEA-1Arabidopsis thaliana
Y256EALQRWLKQLT1Caenorhabditis elegans
Y333LIDFEYSSYNY3Homo sapiens, Mus musculus, Rattus norvegicus
Y333IIDYEYASYNP1Arabidopsis thaliana
Y333IIDYEYSSFNP1Arabidopsis thaliana
Y333LIDFEYASYNY1Caenorhabditis elegans
Y354EWMYDYTYEKY2Mus musculus, Rattus norvegicus
Y354EWMYDYSYEKY1Homo sapiens
Y354EMAADYHSNTP1Arabidopsis thaliana
Y354EMAANYHSDTP1Arabidopsis thaliana
Y354EWTIDYDIDEA1Caenorhabditis elegans
Y437SIEFGYMEYAQ2Mus musculus, Rattus norvegicus
Y437SIEFGYMDYAQ1Homo sapiens
Y437KIEFDYIEYSR1Arabidopsis thaliana
Y437KIEFDYMEYAR1Arabidopsis thaliana
Y437PVGFGFADYGR1Caenorhabditis elegans
Y440FGYMEYAQARF2Mus musculus, Rattus norvegicus
Y440FGYMDYAQARF1Homo sapiens
Y440FDYIEYSRQRF1Arabidopsis thaliana
Y440FDYMEYARQRF1Arabidopsis thaliana
Y440FGFADYGRDRL1Caenorhabditis elegans


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