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 CRHR1
Gene summary
Basic gene Info.Gene symbolCRHR1
Gene namecorticotropin releasing hormone receptor 1
SynonymsCRF-R|CRF-R-1|CRF-R1|CRF1|CRFR-1|CRFR1|CRH-R-1|CRH-R1|CRHR|CRHR1L
CytomapUCSC genome browser: 17q21.31
Type of geneprotein-coding
RefGenesNM_001145146.1,
NM_001145147.1,NM_001145148.1,NM_001303018.1,NM_001303020.1,
NM_004382.4,
DescriptionCRH receptor 1corticotropin-releasing factor receptor 1corticotropin-releasing factor type 1 receptorseven transmembrane helix receptor
Modification date20141222
dbXrefs MIM : 122561
HGNC : HGNC
Ensembl : ENSG00000120088
HPRD : 08830
Vega : OTTHUMG00000178271
ProteinUniProt: P34998
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CRHR1
BioGPS: 1394
PathwayNCI Pathway Interaction Database: CRHR1
KEGG: CRHR1
REACTOME: CRHR1
Pathway Commons: CRHR1
ContextiHOP: CRHR1
ligand binding site mutation search in PubMed: CRHR1
UCL Cancer Institute: CRHR1
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
GO:0010579positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway18292205
GO:0071376cellular response to corticotropin-releasing hormone stimulus18292205
GO:1901386negative regulation of voltage-gated calcium channel activity18292205


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Ligand binding site mutations for CRHR1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F191A190TSTAD2
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 CRHR1
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
F191A190T-0.82906111
(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 CRHR1 from PDB
PDB IDPDB titlePDB structure
2L27NMR Structure of the ECD1 of CRF-R1 in complex with a peptide agonist

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Differential gene expression and gene-gene network for CRHR1
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 CRHR1 and the right PPI network was created from samples without mutations in the LBS of CRHR1. 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 CRHR1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0003469Anxiety Disorders12Biomarker, GeneticVariation
umls:C1269683Depressive Disorder, Major8Biomarker, GeneticVariation
umls:C0236736Cocaine-Related Disorders2Biomarker
umls:C0003123Anorexia1Biomarker
umls:C0011616Dermatitis, Contact1Biomarker
umls:C0424295Hyperkinesis1Biomarker

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

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Pharmacological information for CRHR1
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 CRHR1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of CRHR1
Multiple alignments for P34998 in multiple species
LBSAA sequence# speciesSpecies
F191NLISAFILRNA4Homo sapiens, Macaca mulatta, Rattus norvegicus, Mus musculus
F191NLITAFILRNA1Gallus gallus
F232FHVTNFFWMFG5Homo sapiens, Gallus gallus, Macaca mulatta, Rattus norvegicus, Mus musculus
F313VLLINFIFLFN5Homo sapiens, Gallus gallus, Macaca mulatta, Rattus norvegicus, Mus musculus
G239WMFGEGCYLHT5Homo sapiens, Gallus gallus, Macaca mulatta, Rattus norvegicus, Mus musculus
L309PMILVLLINFI5Homo sapiens, Gallus gallus, Macaca mulatta, Rattus norvegicus, Mus musculus
L349ATLVLLPLLGI4Homo sapiens, Macaca mulatta, Rattus norvegicus, Mus musculus
L349ATLVLLSLLGI1Gallus gallus
L352VLLPLLGITYM4Homo sapiens, Macaca mulatta, Rattus norvegicus, Mus musculus
L352VLLSLLGITYM1Gallus gallus
M235TNFFWMFGEGC5Homo sapiens, Gallus gallus, Macaca mulatta, Rattus norvegicus, Mus musculus
N312LVLLINFIFLF5Homo sapiens, Gallus gallus, Macaca mulatta, Rattus norvegicus, Mus musculus
T345KAVKATLVLLP4Homo sapiens, Macaca mulatta, Rattus norvegicus, Mus musculus
T345KAVKATLVLLS1Gallus gallus


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