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 CREBBP
Gene summary
Basic gene Info.Gene symbolCREBBP
Gene nameCREB binding protein
SynonymsCBP|KAT3A|RSTS
CytomapUCSC genome browser: 16p13.3
Type of geneprotein-coding
RefGenesNM_001079846.1,
NM_004380.2,
DescriptionCREB-binding protein
Modification date20141219
dbXrefs MIM : 600140
HGNC : HGNC
Ensembl : ENSG00000005339
HPRD : 02534
Vega : OTTHUMG00000129431
ProteinUniProt: Q92793
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CREBBP
BioGPS: 1387
PathwayNCI Pathway Interaction Database: CREBBP
KEGG: CREBBP
REACTOME: CREBBP
Pathway Commons: CREBBP
ContextiHOP: CREBBP
ligand binding site mutation search in PubMed: CREBBP
UCL Cancer Institute: CREBBP
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 promoter21539536
GO:0006355regulation of transcription, DNA-templated12169688
GO:0016573histone acetylation11742995
GO:0018076N-terminal peptidyl-lysine acetylation12435739
GO:0045893positive regulation of transcription, DNA-templated11742995


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Ligand binding site mutations for CREBBP

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
L665E666QBLCA1
R1091R1091CBRCA1
R1169R1169CCOAD1
R1091L1090SCOAD1
R672R672CCOAD1
Y1125Y1125HCOAD1
W1165W1165RCOAD1
K1139R1140QLUSC1
T615P616RLUSC1
P1110P1110RSKCM1
C1294V1295ASKCM1
R625M626ISTAD1
R1169R1169SSTAD1
K1139K1139ESTAD1
R1169R1169LSTAD1
R625R625SSTAD1
R625R625HUCEC1
R672R672HUCEC1
E1099A1100EUCEC1
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 CREBBP
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
R625R625H-1.6505414
C1294V1295A-1.6082493
R625R625S-1.5878549
Y1125Y1125H-1.5322646
R1169R1169S-1.4615782
R1091L1090S-1.4446877
W1165W1165R-1.3734181
R1169R1169C-1.1969779
K1139R1140Q-1.1649634
R1169R1169L-0.90704594
E1099A1100E-0.90356665
R672R672H-0.82077976
L665E666Q-0.80539992
T615P616R-0.76040606
R672R672C-0.59684067
P1110P1110R-0.581689
K1139K1139E-0.47021941
R1091R1091C-0.44855885
R625M626I-0.2673626
(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 CREBBP from PDB

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Differential gene expression and gene-gene network for CREBBP
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 CREBBP and the right PPI network was created from samples without mutations in the LBS of CREBBP. 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 CREBBP
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0035934Rubinstein-Taybi Syndrome42Biomarker, GeneticVariation
umls:C0279626Esophageal Squamous Cell Carcinoma2Biomarker
umls:C0033578Prostatic Neoplasms2Biomarker
umls:C1862939Amyotrophic lateral sclerosis 11Biomarker
umls:C0010606Carcinoma, Adenoid Cystic1Biomarker
umls:C0007138Carcinoma, Transitional Cell1Biomarker
umls:C0024301Lymphoma, Follicular1Biomarker
umls:C0149925Small Cell Lung Carcinoma1Biomarker
umls:C0005695Urinary Bladder Neoplasms1Biomarker

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

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Pharmacological information for CREBBP
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
ExperimentalDB086559-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CREBBP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4n3wAC1294
ZNZINC(2+)4n4fAC1294
IIIPeptide ligand (GLY,GLY,ALA,LYS,ARG,HIS,ARG,LYS,VAL,LEU,ARG,ASP,ASN,ILE,GLN)2rnyAP1110
ALYN(6)-ACETYL-L-LYSINE3p1cBP1110
MB3N-METHYLPYRROLIDIN-2-ONE3p1dAP1110
3PF3-METHYL-3,4-DIHYDROQUINAZOLIN-2(1H)-ONE3p1fAP1110
3PF3-METHYL-3,4-DIHYDROQUINAZOLIN-2(1H)-ONE3p1fBP1110
KRG3-(3,5-DIMETHYL-1,2-OXAZOL-4-YL)-5-ETHOXYBENZOIC ACID3svhAP1110
KRG3-(3,5-DIMETHYL-1,2-OXAZOL-4-YL)-5-ETHOXYBENZOIC ACID3svhBP1110
2LK1-(4-CHLOROBENZYL)-5-(3,5-DIMETHYL-1,2-OXAZOL-4-YL)-1H- BENZIMIDAZOLE4nr4AP1110
2LL5-(3,5-DIMETHYL-1,2-OXAZOL-4-YL)-1-[2-(MORPHOLIN-4-YL) ETHYL]-2-(2-PHENYLETHYL)-1H-BENZIMIDAZOLE4nr5AP1110
2LN1-[7-(3,4-DIMETHOXYPHENYL)-9-{[(3R)-1-METHYLPIPERIDIN- 3-YL]METHOXY}-2,3-DIHYDRO-1,4-BENZOXAZEPIN-4(5H)- YL]PROPAN-1-ONE4nr6AP1110
15E6-BROMO-3-METHYL-3,4-DIHYDROQUINAZOLIN-2(1H)-ONE4nyvBP1110
15E6-BROMO-3-METHYL-3,4-DIHYDROQUINAZOLIN-2(1H)-ONE4nyvCP1110
15E6-BROMO-3-METHYL-3,4-DIHYDROQUINAZOLIN-2(1H)-ONE4nyvDP1110
2O3(3R)-N-[3-(3,4-DIHYDROQUINOLIN-1(2H)-YL)PROPYL]-3- METHYL-2-OXO-1,2,3,4-TETRAHYDROQUINOXALINE-5- CARBOXAMIDE4nywAP1110
2O4(3R)-N-[3-(7-METHOXY-3,4-DIHYDROQUINOLIN-1(2H)-YL) PROPYL]-3-METHYL-2-OXO-1,2,3,4-TETRAHYDROQUINOXALINE- 5-CARBOXAMIDE4nyxAP1110
UL43-[(5-ACETYL-2-ETHOXYPHENYL)CARBAMOYL]BENZOIC ACID4tqnAP1110
XZ84-(1-ACETYL-1H-INDOL-3-YL)-5-METHYL-1,2-DIHYDRO-3H- PYRAZOL-3-ONE4ts8AP1110
IIIPeptide ligand (GLY,LYS,GLY,LEU,GLY,LYS)4n4fAP1110 W1165 R1169
TTR9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE2d82AP1110 Y1125
J285-[(E)-(2-AMINO-4-HYDROXY-5-METHYLPHENYL)DIAZENYL]-2,4-DIMETHYLBENZENESULFONIC ACID2l84AP1110 Y1125
DMSDIMETHYL SULFOXIDE3p1eBP1110 Y1125
2LK1-(4-CHLOROBENZYL)-5-(3,5-DIMETHYL-1,2-OXAZOL-4-YL)-1H- BENZIMIDAZOLE4nr4BP1110 Y1125
2LO2-[2-(3-CHLORO-4-METHOXYPHENYL)ETHYL]-5-(3,5-DIMETHYL- 1,2-OXAZOL-4-YL)-1-[(2S)-2-(MORPHOLIN-4-YL)PROPYL]-1H- BENZIMIDAZOLE4nr7AP1110 Y1125
15E6-BROMO-3-METHYL-3,4-DIHYDROQUINAZOLIN-2(1H)-ONE4nyvAP1110 Y1125
3OT2-METHOXY-4-{1-[2-(MORPHOLIN-4-YL)ETHYL]-2-(2- PHENYLETHYL)-1H-BENZIMIDAZOL-5-YL}CYCLOHEPTA-2,4,6- TRIEN-1-ONE4whuAP1110 Y1125
KRG3-(3,5-DIMETHYL-1,2-OXAZOL-4-YL)-5-ETHOXYBENZOIC ACID3svhAR1091 E1099 K1139
KRG3-(3,5-DIMETHYL-1,2-OXAZOL-4-YL)-5-ETHOXYBENZOIC ACID3svhBR1091 E1099 K1139
IIIPeptide ligand (ARG,HIS,ARG,LYS,VAL)4n3wAR1169
L854-[(E)-(4-HYDROXYPHENYL)DIAZENYL]BENZENESULFONIC ACID2l85AY1125
MB3N-METHYLPYRROLIDIN-2-ONE3p1dBY1125
DMSDIMETHYL SULFOXIDE3p1eAY1125
IIIPeptide ligand (SER,HIS,LEU,LYS,SER,LYS,LYS,GLY,GLN,SER,THR,SER,ARG,HIS,LYS,LYS,LEU,MET,PHE,LYS)1jspBY1125 R1169


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Conservation information for LBS of CREBBP
Multiple alignments for Q92793 in multiple species
LBSAA sequence# speciesSpecies


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