mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us

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 AGER
Gene summary
Basic gene Info.Gene symbolAGER
Gene nameadvanced glycosylation end product-specific receptor
SynonymsRAGE
CytomapUCSC genome browser: 6p21.3
Type of geneprotein-coding
RefGenesNM_001136.4,
NM_001206929.1,NM_001206932.1,NM_001206934.1,NM_001206936.1,
NM_001206940.1,NM_001206954.1,NM_001206966.1,NM_172197.2,
NR_038190.1,
DescriptionRAGE isoform NtRAGE-deltaRAGE isoform sRAGE-deltareceptor for advanced glycation end-products variant 20
Modification date20141222
dbXrefs MIM : 600214
HGNC : HGNC
Ensembl : ENSG00000204305
HPRD : 02568
Vega : OTTHUMG00000031120
ProteinUniProt: Q15109
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AGER
BioGPS: 177
PathwayNCI Pathway Interaction Database: AGER
KEGG: AGER
REACTOME: AGER
Pathway Commons: AGER
ContextiHOP: AGER
ligand binding site mutation search in PubMed: AGER
UCL Cancer Institute: AGER
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:0051092positive regulation of NF-kappaB transcription factor activity10391939


Top
Ligand binding site mutations for AGER

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y118Q119KLUAD1
H180R179TLUAD1
D201D201NSKCM1
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.


Top
Protein structure related information for AGER
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
H180R179T-1.2339847
D201D201N-0.52477324
Y118Q119K-0.41537083
(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 AGER from PDB

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


Top

Top
Phenotype information for AGER
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0004153Atherosclerosis11AlteredExpression, Biomarker, GeneticVariation
umls:C0011875Diabetic Angiopathies7AlteredExpression, Biomarker, GeneticVariation
umls:C0003873Arthritis, Rheumatoid6AlteredExpression, Biomarker, GeneticVariation
umls:C0020456Hyperglycemia4Biomarker
umls:C0021368Inflammation2Biomarker
umls:C0020564Hypertrophy1Biomarker
umls:C0752347Lewy Body Disease1Biomarker
umls:C0030286Pancreatic Diseases1Biomarker

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

Top
Pharmacological information for AGER
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 AGER go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4p2yAD201
ZNZINC(2+)4p2yAH180
NUCNucleic Acids3s58AY118
NUCNucleic Acids3s59AY118
NUCNucleic Acids4oi7AY118
NUCNucleic Acids4oi8AY118


Top
Conservation information for LBS of AGER
Multiple alignments for Q15109 in multiple species
LBSAA sequence# speciesSpecies


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas