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 RELA
Gene summary
Basic gene Info.Gene symbolRELA
Gene namev-rel avian reticuloendotheliosis viral oncogene homolog A
SynonymsNFKB3|p65
CytomapUCSC genome browser: 11q13
Type of geneprotein-coding
RefGenesNM_001145138.1,
NM_001243984.1,NM_001243985.1,NM_021975.3,
DescriptionNF-kappa-B p65delta3nuclear factor NF-kappa-B p65 subunitnuclear factor of kappa light polypeptide gene enhancer in B-cells 3transcription factor p65v-rel reticuloendotheliosis viral oncogene homolog A
Modification date20141222
dbXrefs MIM : 164014
HGNC : HGNC
Ensembl : ENSG00000173039
HPRD : 01241
Vega : OTTHUMG00000166566
ProteinUniProt: Q04206
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RELA
BioGPS: 5970
PathwayNCI Pathway Interaction Database: RELA
KEGG: RELA
REACTOME: RELA
Pathway Commons: RELA
ContextiHOP: RELA
ligand binding site mutation search in PubMed: RELA
UCL Cancer Institute: RELA
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:0000122negative regulation of transcription from RNA polymerase II promoter17350185
GO:0006954inflammatory response12924514
GO:0008284positive regulation of cell proliferation23091055
GO:0010033response to organic substance10747850
GO:0010224response to UV-B15616591
GO:0019221cytokine-mediated signaling pathway15876188
GO:0043066negative regulation of apoptotic process10747850
GO:0045892negative regulation of transcription, DNA-templated17350185
GO:0045893positive regulation of transcription, DNA-templated17350185
GO:0045944positive regulation of transcription from RNA polymerase II promoter1406630
GO:0051092positive regulation of NF-kappaB transcription factor activity15790681
GO:0070301cellular response to hydrogen peroxide21830064
GO:0070431nucleotide-binding oligomerization domain containing 2 signaling pathway12527755
GO:0071347cellular response to interleukin-118073330
GO:0071356cellular response to tumor necrosis factor18073330


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Ligand binding site mutations for RELA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R187R187CCOAD1
R187N186KCOAD1
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 RELA
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
R187R187C-0.86611904
R187N186K-0.6893846
(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 RELA from PDB

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Differential gene expression and gene-gene network for RELA
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 RELA and the right PPI network was created from samples without mutations in the LBS of RELA. 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 RELA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009324Colitis, Ulcerative7AlteredExpression, Biomarker
umls:C1458155Breast Neoplasms6Biomarker
umls:C0009319Colitis4Biomarker
umls:C0022661Kidney Failure, Chronic3Biomarker
umls:C0011853Diabetes Mellitus, Experimental3Biomarker
umls:C0035126Reperfusion Injury3Biomarker
umls:C0020538Hypertension2Biomarker
umls:C0006118Brain Neoplasms2Biomarker
umls:C0009375Colonic Neoplasms2Biomarker
umls:C0011881Diabetic Nephropathies2Biomarker
umls:C0008370Cholestasis2Biomarker
umls:C0236733Amphetamine-Related Disorders1Biomarker
umls:C0004763Barrett Esophagus1Biomarker
umls:C0007786Brain Ischemia1Therapeutic
umls:C0007134Carcinoma, Renal Cell1Biomarker
umls:C0007621Cell Transformation, Neoplastic1Biomarker
umls:C0010692Cystitis1Biomarker
umls:C0011860Diabetes Mellitus, Type 21Biomarker
umls:C0018843Heat Stroke1Biomarker
umls:C0023891Liver Cirrhosis, Alcoholic1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker
umls:C0027659Neoplasms, Experimental1Biomarker
umls:C0037286Skin Neoplasms1Biomarker

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

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Pharmacological information for RELA
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.

Gene-centered drug-gene interaction network
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 RELA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3gutAR187
NUCNucleic Acids3gutCR187
NUCNucleic Acids3gutER187
NUCNucleic Acids3gutGR187


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Conservation information for LBS of RELA
Multiple alignments for Q04206 in multiple species
LBSAA sequence# speciesSpecies
A43CEGRSAGSIPG3Homo sapiens, Gallus gallus, Mus musculus
C38RFRYKCEGRSA3Homo sapiens, Gallus gallus, Mus musculus
E39FRYKCEGRSAG3Homo sapiens, Gallus gallus, Mus musculus
G44EGRSAGSIPGE3Homo sapiens, Gallus gallus, Mus musculus
K122GIQCVKKRDLE2Homo sapiens, Mus musculus
K122GIQCVKKRELE1Gallus gallus
K123IQCVKKRDLEQ2Homo sapiens, Mus musculus
K123IQCVKKRELEA1Gallus gallus
M32PKQRGMRFRYK3Homo sapiens, Gallus gallus, Mus musculus
N155GDYDLNAVRLC2Homo sapiens, Mus musculus
N155AEYDLSAVRLC1Gallus gallus
Q220LCDKVQKEDIE3Homo sapiens, Gallus gallus, Mus musculus
Q247ADVHRQVAIVF3Homo sapiens, Gallus gallus, Mus musculus
R187PIFDNRAPNTA2Homo sapiens, Mus musculus
R187PIYDNRAPSTA1Gallus gallus
R246QADVHRQVAIV2Homo sapiens, Mus musculus
R246AADVHRQVAIV1Gallus gallus
R33KQRGMRFRYKC3Homo sapiens, Gallus gallus, Mus musculus
R35RGMRFRYKCEG3Homo sapiens, Gallus gallus, Mus musculus
R41YKCEGRSAGSI3Homo sapiens, Gallus gallus, Mus musculus
S42KCEGRSAGSIP3Homo sapiens, Gallus gallus, Mus musculus
S45GRSAGSIPGER2Homo sapiens, Mus musculus
S45GRSAGSIPGEH1Gallus gallus
Y36GMRFRYKCEGR3Homo sapiens, Gallus gallus, Mus musculus


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