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 CEBPB
Gene summary
Basic gene Info.Gene symbolCEBPB
Gene nameCCAAT/enhancer binding protein (C/EBP), beta
SynonymsC/EBP-beta|IL6DBP|NF-IL6|TCF5
CytomapUCSC genome browser: 20q13.1
Type of geneprotein-coding
RefGenesNM_001285878.1,
NM_001285879.1,NM_005194.3,
DescriptionCCAAT/enhancer-binding protein betainterleukin 6-dependent DNA-binding proteinnuclear factor NF-IL6nuclear factor of interleukin 6transcription factor 5
Modification date20141222
dbXrefs MIM : 189965
HGNC : HGNC
Ensembl : ENSG00000172216
HPRD : 01801
Vega : OTTHUMG00000032715
ProteinUniProt: P17676
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CEBPB
BioGPS: 1051
PathwayNCI Pathway Interaction Database: CEBPB
KEGG: CEBPB
REACTOME: CEBPB
Pathway Commons: CEBPB
ContextiHOP: CEBPB
ligand binding site mutation search in PubMed: CEBPB
UCL Cancer Institute: CEBPB
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:0006355regulation of transcription, DNA-templated20829347
GO:0034976response to endoplasmic reticulum stress20829347


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Ligand binding site mutations for CEBPB
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
K293K293NCOAD1
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 CEBPB
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
K293K293N-1.2389891
(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 CEBPB from PDB

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Differential gene expression and gene-gene network for CEBPB
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 CEBPB and the right PPI network was created from samples without mutations in the LBS of CEBPB. 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 CEBPB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular8Biomarker
umls:C0034069Pulmonary Fibrosis2Biomarker
umls:C0270611Brain Injuries1Biomarker
umls:C0007786Brain Ischemia1Biomarker
umls:C0015695Fatty Liver1Biomarker
umls:C0021361Infertility, Female1Biomarker

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

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Pharmacological information for CEBPB
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 CEBPB go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids1gtwAK293
NUCNucleic Acids1gu4AK293
NUCNucleic Acids1gu5AK293
NUCNucleic Acids1h88AK293
NUCNucleic Acids1h89AK293
NUCNucleic Acids1hjbBK293
NUCNucleic Acids1io4BK293
NUCNucleic Acids2e42AK293
NUCNucleic Acids2e43AK293


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Conservation information for LBS of CEBPB
Multiple alignments for P17676 in multiple species
LBSAA sequence# speciesSpecies
A284ERNNIAVRKSR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K269KKTVDKHSDEY1Homo sapiens
K269KKCVDKHSDEY1Gallus gallus
K269KKTVDKLSDEY1Mus musculus
K269KKAVDKLSDEY1Rattus norvegicus
K287NIAVRKSRDKA4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K291RKSRDKAKMRN4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K293SRDKAKMRNLE4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
N281MRRERNNIAVR2Mus musculus, Rattus norvegicus
N281IRRERNNIAVR1Homo sapiens
N281LRRERNNIAVR1Gallus gallus
N282RRERNNIAVRK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R277DEYKMRRERNN2Mus musculus, Rattus norvegicus
R277DEYKIRRERNN1Homo sapiens
R277DEYKLRRERNN1Gallus gallus
R278EYKMRRERNNI2Mus musculus, Rattus norvegicus
R278EYKIRRERNNI1Homo sapiens
R278EYKLRRERNNI1Gallus gallus
R280KMRRERNNIAV2Mus musculus, Rattus norvegicus
R280KIRRERNNIAV1Homo sapiens
R280KLRRERNNIAV1Gallus gallus
R286NNIAVRKSRDK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R289AVRKSRDKAKM4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S288IAVRKSRDKAK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
V285RNNIAVRKSRD4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y274KLSDEYKMRRE2Mus musculus, Rattus norvegicus
Y274KHSDEYKIRRE1Homo sapiens
Y274KHSDEYKLRRE1Gallus gallus


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