mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 CCKAR
Gene summary
Basic gene Info.Gene symbolCCKAR
Gene namecholecystokinin A receptor
SynonymsCCK-A|CCK1-R|CCK1R|CCKRA
CytomapUCSC genome browser: 4p15.2
Type of geneprotein-coding
RefGenesNM_000730.2,
DescriptionCCK-A receptorCCK-ARcholecystokinin receptor type Acholecystokinin type-A receptorcholecystokinin-1 receptor
Modification date20141207
dbXrefs MIM : 118444
HGNC : HGNC
Ensembl : ENSG00000163394
HPRD : 00322
Vega : OTTHUMG00000128567
ProteinUniProt: P32238
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CCKAR
BioGPS: 886
PathwayNCI Pathway Interaction Database: CCKAR
KEGG: CCKAR
REACTOME: CCKAR
Pathway Commons: CCKAR
ContextiHOP: CCKAR
ligand binding site mutation search in PubMed: CCKAR
UCL Cancer Institute: CCKAR
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for CCKAR
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
L7V9LLUAD1
P35S36FSKCM1
P35P35SSKCM1
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 CCKAR
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
P35P35S-1.3954126
L7V9L-0.97633537
P35S36F-0.72532816
(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 CCKAR from PDB

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Differential gene expression and gene-gene network for CCKAR
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 CCKAR and the right PPI network was created from samples without mutations in the LBS of CCKAR. 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 CCKAR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001973Alcoholism4Biomarker, GeneticVariation

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

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Pharmacological information for CCKAR
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 statusDrugBank IDNameTypeDrug structure
ApprovedDB00403CeruletideSmall molecule
InvestigationalDB04856DexloxiglumideSmall molecule
InvestigationalDB04867LintitriptSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CCKAR go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ASP,TYR,MET,GLY,TRP,MET,ASP,PHE,NH2)1d6gAP35


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Conservation information for LBS of CCKAR
Multiple alignments for P32238 in multiple species
LBSAA sequence# speciesSpecies
E38PRPSKEWQPAV1Homo sapiens
E38PRAAKEWQPAV1Canis lupus familiaris
E38PQPSKEWQSAV1Mus musculus
E38PQPSKEWQSAL1Rattus norvegicus
L7DVVDSLLMNGS2Mus musculus, Rattus norvegicus
L7DVVDSLLVNGS1Homo sapiens
L7EVADSLLGNGS1Canis lupus familiaris
P35LDQPQPSKEWQ2Mus musculus, Rattus norvegicus
P35LDQPRPSKEWQ1Homo sapiens
P35LEQPRAAKEWQ1Canis lupus familiaris
R34CLDQPQPSKEW2Mus musculus, Rattus norvegicus
R34CLDQPRPSKEW1Homo sapiens
R34CLEQPRAAKEW1Canis lupus familiaris


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