mutLBSgeneDB |
Gene summary for CEBPB |
Gene summary |
Basic gene Info. | Gene symbol | CEBPB |
Gene name | CCAAT/enhancer binding protein (C/EBP), beta | |
Synonyms | C/EBP-beta|IL6DBP|NF-IL6|TCF5 | |
Cytomap | UCSC genome browser: 20q13.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001285878.1, NM_001285879.1,NM_005194.3, | |
Description | CCAAT/enhancer-binding protein betainterleukin 6-dependent DNA-binding proteinnuclear factor NF-IL6nuclear factor of interleukin 6transcription factor 5 | |
Modification date | 20141222 | |
dbXrefs | MIM : 189965 | |
HGNC : HGNC | ||
Ensembl : ENSG00000172216 | ||
HPRD : 01801 | ||
Vega : OTTHUMG00000032715 | ||
Protein | UniProt: P17676 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CEBPB | |
BioGPS: 1051 | ||
Pathway | NCI Pathway Interaction Database: CEBPB | |
KEGG: CEBPB | ||
REACTOME: CEBPB | ||
Pathway Commons: CEBPB | ||
Context | iHOP: CEBPB | |
ligand binding site mutation search in PubMed: CEBPB | ||
UCL Cancer Institute: CEBPB | ||
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:0006355 | regulation of transcription, DNA-templated | 20829347 | GO:0034976 | response to endoplasmic reticulum stress | 20829347 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | K293 | K293N | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | K293 | K293N | -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) |
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Phenotype information for CEBPB |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C2239176 | Carcinoma, Hepatocellular | 8 | Biomarker |
umls:C0034069 | Pulmonary Fibrosis | 2 | Biomarker |
umls:C0270611 | Brain Injuries | 1 | Biomarker |
umls:C0007786 | Brain Ischemia | 1 | Biomarker |
umls:C0015695 | Fatty Liver | 1 | Biomarker |
umls:C0021361 | Infertility, Female | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for CEBPB |
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 CEBPB go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1gtw | A | K293 | NUC | Nucleic Acids | 1gu4 | A | K293 | NUC | Nucleic Acids | 1gu5 | A | K293 | NUC | Nucleic Acids | 1h88 | A | K293 | NUC | Nucleic Acids | 1h89 | A | K293 | NUC | Nucleic Acids | 1hjb | B | K293 | NUC | Nucleic Acids | 1io4 | B | K293 | NUC | Nucleic Acids | 2e42 | A | K293 | NUC | Nucleic Acids | 2e43 | A | K293 |
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Conservation information for LBS of CEBPB |
Multiple alignments for P17676 in multiple species |
LBS | AA sequence | # species | Species | A284 | ERNNIAVRKSR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K269 | KKTVDKHSDEY | 1 | Homo sapiens | K269 | KKCVDKHSDEY | 1 | Gallus gallus | K269 | KKTVDKLSDEY | 1 | Mus musculus | K269 | KKAVDKLSDEY | 1 | Rattus norvegicus | K287 | NIAVRKSRDKA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K291 | RKSRDKAKMRN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K293 | SRDKAKMRNLE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | N281 | MRRERNNIAVR | 2 | Mus musculus, Rattus norvegicus | N281 | IRRERNNIAVR | 1 | Homo sapiens | N281 | LRRERNNIAVR | 1 | Gallus gallus | N282 | RRERNNIAVRK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R277 | DEYKMRRERNN | 2 | Mus musculus, Rattus norvegicus | R277 | DEYKIRRERNN | 1 | Homo sapiens | R277 | DEYKLRRERNN | 1 | Gallus gallus | R278 | EYKMRRERNNI | 2 | Mus musculus, Rattus norvegicus | R278 | EYKIRRERNNI | 1 | Homo sapiens | R278 | EYKLRRERNNI | 1 | Gallus gallus | R280 | KMRRERNNIAV | 2 | Mus musculus, Rattus norvegicus | R280 | KIRRERNNIAV | 1 | Homo sapiens | R280 | KLRRERNNIAV | 1 | Gallus gallus | R286 | NNIAVRKSRDK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R289 | AVRKSRDKAKM | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S288 | IAVRKSRDKAK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | V285 | RNNIAVRKSRD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Y274 | KLSDEYKMRRE | 2 | Mus musculus, Rattus norvegicus | Y274 | KHSDEYKIRRE | 1 | Homo sapiens | Y274 | KHSDEYKLRRE | 1 | Gallus gallus |
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