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mutLBSgeneDB |
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| Gene summary for AGER |
 Gene summary |
| Basic gene Info. | Gene symbol | AGER |
| Gene name | advanced glycosylation end product-specific receptor | |
| Synonyms | RAGE | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_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, | |
| Description | RAGE isoform NtRAGE-deltaRAGE isoform sRAGE-deltareceptor for advanced glycation end-products variant 20 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600214 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204305 | ||
| HPRD : 02568 | ||
| Vega : OTTHUMG00000031120 | ||
| Protein | UniProt: Q15109 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AGER | |
| BioGPS: 177 | ||
| Pathway | NCI Pathway Interaction Database: AGER | |
| KEGG: AGER | ||
| REACTOME: AGER | ||
| Pathway Commons: AGER | ||
| Context | iHOP: AGER | |
| ligand binding site mutation search in PubMed: AGER | ||
| UCL Cancer Institute: AGER | ||
| 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 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 10391939 |
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| Ligand binding site mutations for AGER |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y118 | Q119K | LUAD | 1 | H180 | R179T | LUAD | 1 | D201 | D201N | 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 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 |
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| 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 | H180 | R179T | -1.2339847 | D201 | D201N | -0.52477324 | Y118 | Q119K | -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 |
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| 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) |
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| Phenotype information for AGER |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004153 | Atherosclerosis | 11 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0011875 | Diabetic Angiopathies | 7 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0003873 | Arthritis, Rheumatoid | 6 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0020456 | Hyperglycemia | 4 | Biomarker |
| umls:C0021368 | Inflammation | 2 | Biomarker |
| umls:C0020564 | Hypertrophy | 1 | Biomarker |
| umls:C0752347 | Lewy Body Disease | 1 | Biomarker |
| umls:C0030286 | Pancreatic Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AGER go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4p2y | A | D201 | ZN | ZINC(2+) | 4p2y | A | H180 | NUC | Nucleic Acids | 3s58 | A | Y118 | NUC | Nucleic Acids | 3s59 | A | Y118 | NUC | Nucleic Acids | 4oi7 | A | Y118 | NUC | Nucleic Acids | 4oi8 | A | Y118 |
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| Conservation information for LBS of AGER |
| Multiple alignments for Q15109 in multiple species |
| LBS | AA sequence | # species | Species |
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