mutLBSgeneDB |
Gene summary for CCKAR |
Gene summary |
Basic gene Info. | Gene symbol | CCKAR |
Gene name | cholecystokinin A receptor | |
Synonyms | CCK-A|CCK1-R|CCK1R|CCKRA | |
Cytomap | UCSC genome browser: 4p15.2 | |
Type of gene | protein-coding | |
RefGenes | NM_000730.2, | |
Description | CCK-A receptorCCK-ARcholecystokinin receptor type Acholecystokinin type-A receptorcholecystokinin-1 receptor | |
Modification date | 20141207 | |
dbXrefs | MIM : 118444 | |
HGNC : HGNC | ||
Ensembl : ENSG00000163394 | ||
HPRD : 00322 | ||
Vega : OTTHUMG00000128567 | ||
Protein | UniProt: P32238 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CCKAR | |
BioGPS: 886 | ||
Pathway | NCI Pathway Interaction Database: CCKAR | |
KEGG: CCKAR | ||
REACTOME: CCKAR | ||
Pathway Commons: CCKAR | ||
Context | iHOP: CCKAR | |
ligand binding site mutation search in PubMed: CCKAR | ||
UCL Cancer Institute: CCKAR | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 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 |
LBS | AAchange of nsSNV | Cancer type | # samples | L7 | V9L | LUAD | 1 | P35 | S36F | SKCM | 1 | P35 | P35S | SKCM | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | P35 | P35S | -1.3954126 | L7 | V9L | -0.97633537 | P35 | S36F | -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) |
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Phenotype information for CCKAR |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0001973 | Alcoholism | 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 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 status | DrugBank ID | Name | Type | Drug structure |
Approved | DB00403 | Ceruletide | Small molecule | |
Investigational | DB04856 | Dexloxiglumide | Small molecule | |
Investigational | DB04867 | Lintitript | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of CCKAR go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,TYR,MET,GLY,TRP,MET,ASP,PHE,NH2) | 1d6g | A | P35 |
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Conservation information for LBS of CCKAR |
Multiple alignments for P32238 in multiple species |
LBS | AA sequence | # species | Species | E38 | PRPSKEWQPAV | 1 | Homo sapiens | E38 | PRAAKEWQPAV | 1 | Canis lupus familiaris | E38 | PQPSKEWQSAV | 1 | Mus musculus | E38 | PQPSKEWQSAL | 1 | Rattus norvegicus | L7 | DVVDSLLMNGS | 2 | Mus musculus, Rattus norvegicus | L7 | DVVDSLLVNGS | 1 | Homo sapiens | L7 | EVADSLLGNGS | 1 | Canis lupus familiaris | P35 | LDQPQPSKEWQ | 2 | Mus musculus, Rattus norvegicus | P35 | LDQPRPSKEWQ | 1 | Homo sapiens | P35 | LEQPRAAKEWQ | 1 | Canis lupus familiaris | R34 | CLDQPQPSKEW | 2 | Mus musculus, Rattus norvegicus | R34 | CLDQPRPSKEW | 1 | Homo sapiens | R34 | CLEQPRAAKEW | 1 | Canis lupus familiaris |
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