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mutLBSgeneDB |
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| Gene summary for EGR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | EGR1 |
| Gene name | early growth response 1 | |
| Synonyms | AT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225 | |
| Cytomap | UCSC genome browser: 5q31.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001964.2, | |
| Description | EGR-1early growth response protein 1nerve growth factor-induced protein Atranscription factor ETR103transcription factor Zif268zinc finger protein 225zinc finger protein Krox-24 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 128990 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000120738 | ||
| HPRD : 00549 | ||
| Vega : OTTHUMG00000129197 | ||
| Protein | UniProt: P18146 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EGR1 | |
| BioGPS: 1958 | ||
| Pathway | NCI Pathway Interaction Database: EGR1 | |
| KEGG: EGR1 | ||
| REACTOME: EGR1 | ||
| Pathway Commons: EGR1 | ||
| Context | iHOP: EGR1 | |
| ligand binding site mutation search in PubMed: EGR1 | ||
| UCL Cancer Institute: EGR1 | ||
| 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:0006366 | transcription from RNA polymerase II promoter | 19057511 | GO:0033233 | regulation of protein sumoylation | 19057511 | GO:0045893 | positive regulation of transcription, DNA-templated | 12560508 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 19057511 |
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| Ligand binding site mutations for EGR1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R375 | R375C | COAD | 2 | R351 | R351C | LUAD | 1 | R336 | E335K | UCEC | 1 | R360 | R360H | UCEC | 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 EGR1 |
| 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 | R360 | R360H | -1.2282971 | R375 | R375C | -0.86880624 | R336 | E335K | -0.85763741 | R351 | R351C | -0.40905687 |
| (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 EGR1 from PDB |
| PDB ID | PDB title | PDB structure | 4R2A | Egr1/Zif268 zinc fingers in complex with methylated DNA |  |
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| Differential gene expression and gene-gene network for EGR1 |
| 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 EGR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033578 | Prostatic Neoplasms | 12 | AlteredExpression, Biomarker |
| umls:C0022116 | Ischemia | 5 | Biomarker |
| umls:C0236736 | Cocaine-Related Disorders | 3 | Biomarker, Therapeutic |
| umls:C0035126 | Reperfusion Injury | 2 | Biomarker |
| umls:C0003130 | Anoxia | 2 | AlteredExpression, Biomarker |
| umls:C0025500 | Mesothelioma | 2 | Biomarker |
| umls:C0008370 | Cholestasis | 2 | Biomarker |
| umls:C0008372 | Cholestasis, Intrahepatic | 2 | Biomarker |
| umls:C0007786 | Brain Ischemia | 1 | Biomarker |
| umls:C0020295 | Hydronephrosis | 1 | Biomarker |
| umls:C0021368 | Inflammation | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EGR1 |
| 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 EGR1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4r2a | A | R336 R351 R375 | NUC | Nucleic Acids | 4r2d | A | R336 R351 R375 | NUC | Nucleic Acids | 4r2c | A | R351 | NUC | Nucleic Acids | 4r2a | A | R351 R360 | NUC | Nucleic Acids | 4r2d | A | R351 R360 | NUC | Nucleic Acids | 4r2c | A | R351 R375 |
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| Conservation information for LBS of EGR1 |
| Multiple alignments for P18146 in multiple species |
| LBS | AA sequence | # species | Species | D353 | RFSRSDELTRH | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | D381 | NFSRSDHLTTH | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | D409 | KFARSDERKRH | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | E354 | FSRSDELTRHI | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | E410 | FARSDERKRHT | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | F349 | SCDRRFSRSDE | 5 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | F349 | TCDRRFSRSDE | 1 | Danio rerio | H358 | DELTRHIRIHT | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | H382 | FSRSDHLTTHI | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | H386 | DHLTTHIRTHT | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | I361 | TRHIRIHTGQK | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | K412 | RSDERKRHTKI | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R336 | TPPHERPYACP | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R347 | VESCDRRFSRS | 5 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R347 | VETCDRRFSRS | 1 | Danio rerio | R351 | DRRFSRSDELT | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R357 | SDELTRHIRIH | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R360 | LTRHIRIHTGQ | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R375 | CRICMRNFSRS | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus | R375 | CRISMRNFSRS | 1 | Bos taurus | R379 | MRNFSRSDHLT | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R403 | CDICGRKFARS | 5 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R403 | CEICGRKFARS | 1 | Danio rerio | R407 | GRKFARSDERK | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | R413 | SDERKRHTKIH | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | S352 | RRFSRSDELTR | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | S378 | CMRNFSRSDHL | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus | S378 | SMRNFSRSDHL | 1 | Bos taurus | S408 | RKFARSDERKR | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | T356 | RSDELTRHIRI | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus | T389 | TTHIRTHTGEK | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus |
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