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 EGR1
Gene summary
Basic gene Info.Gene symbolEGR1
Gene nameearly growth response 1
SynonymsAT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225
CytomapUCSC genome browser: 5q31.1
Type of geneprotein-coding
RefGenesNM_001964.2,
DescriptionEGR-1early growth response protein 1nerve growth factor-induced protein Atranscription factor ETR103transcription factor Zif268zinc finger protein 225zinc finger protein Krox-24
Modification date20141222
dbXrefs MIM : 128990
HGNC : HGNC
Ensembl : ENSG00000120738
HPRD : 00549
Vega : OTTHUMG00000129197
ProteinUniProt: P18146
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EGR1
BioGPS: 1958
PathwayNCI Pathway Interaction Database: EGR1
KEGG: EGR1
REACTOME: EGR1
Pathway Commons: EGR1
ContextiHOP: EGR1
ligand binding site mutation search in PubMed: EGR1
UCL Cancer Institute: EGR1
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:0006366transcription from RNA polymerase II promoter19057511
GO:0033233regulation of protein sumoylation19057511
GO:0045893positive regulation of transcription, DNA-templated12560508
GO:0045944positive regulation of transcription from RNA polymerase II promoter19057511


Top
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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R375R375CCOAD2
R351R351CLUAD1
R336E335KUCEC1
R360R360HUCEC1
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 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

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
R360R360H-1.2282971
R375R375C-0.86880624
R336E335K-0.85763741
R351R351C-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 IDPDB titlePDB structure
4R2AEgr1/Zif268 zinc fingers in complex with methylated DNA

Top
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)
* Left PPI network was created from samples with mutations in the LBS of EGR1 and the right PPI network was created from samples without mutations in the LBS of EGR1. 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 EGR1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033578Prostatic Neoplasms12AlteredExpression, Biomarker
umls:C0022116Ischemia5Biomarker
umls:C0236736Cocaine-Related Disorders3Biomarker, Therapeutic
umls:C0035126Reperfusion Injury2Biomarker
umls:C0003130Anoxia2AlteredExpression, Biomarker
umls:C0025500Mesothelioma2Biomarker
umls:C0008370Cholestasis2Biomarker
umls:C0008372Cholestasis, Intrahepatic2Biomarker
umls:C0007786Brain Ischemia1Biomarker
umls:C0020295Hydronephrosis1Biomarker
umls:C0021368Inflammation1Biomarker

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

Top
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.
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 EGR1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4r2aAR336 R351 R375
NUCNucleic Acids4r2dAR336 R351 R375
NUCNucleic Acids4r2cAR351
NUCNucleic Acids4r2aAR351 R360
NUCNucleic Acids4r2dAR351 R360
NUCNucleic Acids4r2cAR351 R375


Top
Conservation information for LBS of EGR1
Multiple alignments for P18146 in multiple species
LBSAA sequence# speciesSpecies
D353RFSRSDELTRH6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
D381NFSRSDHLTTH6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
D409KFARSDERKRH6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
E354FSRSDELTRHI6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
E410FARSDERKRHT6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
F349SCDRRFSRSDE5Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
F349TCDRRFSRSDE1Danio rerio
H358DELTRHIRIHT6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
H382FSRSDHLTTHI6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
H386DHLTTHIRTHT6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
I361TRHIRIHTGQK6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
K412RSDERKRHTKI6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R336TPPHERPYACP6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R347VESCDRRFSRS5Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R347VETCDRRFSRS1Danio rerio
R351DRRFSRSDELT6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R357SDELTRHIRIH6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R360LTRHIRIHTGQ6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R375CRICMRNFSRS5Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus
R375CRISMRNFSRS1Bos taurus
R379MRNFSRSDHLT6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R403CDICGRKFARS5Homo sapiens, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R403CEICGRKFARS1Danio rerio
R407GRKFARSDERK6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
R413SDERKRHTKIH6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
S352RRFSRSDELTR6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
S378CMRNFSRSDHL5Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus
S378SMRNFSRSDHL1Bos taurus
S408RKFARSDERKR6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
T356RSDELTRHIRI6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus
T389TTHIRTHTGEK6Homo sapiens, Danio rerio, Xenopus tropicalis, Rattus norvegicus, Mus musculus, Bos taurus


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