mutLBSgeneDB |
Gene summary for RELA |
Gene summary |
Basic gene Info. | Gene symbol | RELA |
Gene name | v-rel avian reticuloendotheliosis viral oncogene homolog A | |
Synonyms | NFKB3|p65 | |
Cytomap | UCSC genome browser: 11q13 | |
Type of gene | protein-coding | |
RefGenes | NM_001145138.1, NM_001243984.1,NM_001243985.1,NM_021975.3, | |
Description | NF-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 date | 20141222 | |
dbXrefs | MIM : 164014 | |
HGNC : HGNC | ||
Ensembl : ENSG00000173039 | ||
HPRD : 01241 | ||
Vega : OTTHUMG00000166566 | ||
Protein | UniProt: Q04206 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RELA | |
BioGPS: 5970 | ||
Pathway | NCI Pathway Interaction Database: RELA | |
KEGG: RELA | ||
REACTOME: RELA | ||
Pathway Commons: RELA | ||
Context | iHOP: RELA | |
ligand binding site mutation search in PubMed: RELA | ||
UCL Cancer Institute: RELA | ||
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:0000122 | negative regulation of transcription from RNA polymerase II promoter | 17350185 | GO:0006954 | inflammatory response | 12924514 | GO:0008284 | positive regulation of cell proliferation | 23091055 | GO:0010033 | response to organic substance | 10747850 | GO:0010224 | response to UV-B | 15616591 | GO:0019221 | cytokine-mediated signaling pathway | 15876188 | GO:0043066 | negative regulation of apoptotic process | 10747850 | GO:0045892 | negative regulation of transcription, DNA-templated | 17350185 | GO:0045893 | positive regulation of transcription, DNA-templated | 17350185 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 1406630 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 15790681 | GO:0070301 | cellular response to hydrogen peroxide | 21830064 | GO:0070431 | nucleotide-binding oligomerization domain containing 2 signaling pathway | 12527755 | GO:0071347 | cellular response to interleukin-1 | 18073330 | GO:0071356 | cellular response to tumor necrosis factor | 18073330 |
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Ligand binding site mutations for RELA |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | R187 | R187C | COAD | 1 | R187 | N186K | COAD | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | R187 | R187C | -0.86611904 | R187 | N186K | -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) |
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Phenotype information for RELA |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0009324 | Colitis, Ulcerative | 7 | AlteredExpression, Biomarker |
umls:C1458155 | Breast Neoplasms | 6 | Biomarker |
umls:C0009319 | Colitis | 4 | Biomarker |
umls:C0022661 | Kidney Failure, Chronic | 3 | Biomarker |
umls:C0011853 | Diabetes Mellitus, Experimental | 3 | Biomarker |
umls:C0035126 | Reperfusion Injury | 3 | Biomarker |
umls:C0020538 | Hypertension | 2 | Biomarker |
umls:C0006118 | Brain Neoplasms | 2 | Biomarker |
umls:C0009375 | Colonic Neoplasms | 2 | Biomarker |
umls:C0011881 | Diabetic Nephropathies | 2 | Biomarker |
umls:C0008370 | Cholestasis | 2 | Biomarker |
umls:C0236733 | Amphetamine-Related Disorders | 1 | Biomarker |
umls:C0004763 | Barrett Esophagus | 1 | Biomarker |
umls:C0007786 | Brain Ischemia | 1 | Therapeutic |
umls:C0007134 | Carcinoma, Renal Cell | 1 | Biomarker |
umls:C0007621 | Cell Transformation, Neoplastic | 1 | Biomarker |
umls:C0010692 | Cystitis | 1 | Biomarker |
umls:C0011860 | Diabetes Mellitus, Type 2 | 1 | Biomarker |
umls:C0018843 | Heat Stroke | 1 | Biomarker |
umls:C0023891 | Liver Cirrhosis, Alcoholic | 1 | Biomarker |
umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
umls:C0027659 | Neoplasms, Experimental | 1 | Biomarker |
umls:C0037286 | Skin Neoplasms | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of RELA go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3gut | A | R187 | NUC | Nucleic Acids | 3gut | C | R187 | NUC | Nucleic Acids | 3gut | E | R187 | NUC | Nucleic Acids | 3gut | G | R187 |
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Conservation information for LBS of RELA |
Multiple alignments for Q04206 in multiple species |
LBS | AA sequence | # species | Species | A43 | CEGRSAGSIPG | 3 | Homo sapiens, Gallus gallus, Mus musculus | C38 | RFRYKCEGRSA | 3 | Homo sapiens, Gallus gallus, Mus musculus | E39 | FRYKCEGRSAG | 3 | Homo sapiens, Gallus gallus, Mus musculus | G44 | EGRSAGSIPGE | 3 | Homo sapiens, Gallus gallus, Mus musculus | K122 | GIQCVKKRDLE | 2 | Homo sapiens, Mus musculus | K122 | GIQCVKKRELE | 1 | Gallus gallus | K123 | IQCVKKRDLEQ | 2 | Homo sapiens, Mus musculus | K123 | IQCVKKRELEA | 1 | Gallus gallus | M32 | PKQRGMRFRYK | 3 | Homo sapiens, Gallus gallus, Mus musculus | N155 | GDYDLNAVRLC | 2 | Homo sapiens, Mus musculus | N155 | AEYDLSAVRLC | 1 | Gallus gallus | Q220 | LCDKVQKEDIE | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q247 | ADVHRQVAIVF | 3 | Homo sapiens, Gallus gallus, Mus musculus | R187 | PIFDNRAPNTA | 2 | Homo sapiens, Mus musculus | R187 | PIYDNRAPSTA | 1 | Gallus gallus | R246 | QADVHRQVAIV | 2 | Homo sapiens, Mus musculus | R246 | AADVHRQVAIV | 1 | Gallus gallus | R33 | KQRGMRFRYKC | 3 | Homo sapiens, Gallus gallus, Mus musculus | R35 | RGMRFRYKCEG | 3 | Homo sapiens, Gallus gallus, Mus musculus | R41 | YKCEGRSAGSI | 3 | Homo sapiens, Gallus gallus, Mus musculus | S42 | KCEGRSAGSIP | 3 | Homo sapiens, Gallus gallus, Mus musculus | S45 | GRSAGSIPGER | 2 | Homo sapiens, Mus musculus | S45 | GRSAGSIPGEH | 1 | Gallus gallus | Y36 | GMRFRYKCEGR | 3 | Homo sapiens, Gallus gallus, Mus musculus |
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