Cancer Cell Metabolism Gene Database

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Phenotypic Information (metabolism pathway, cancer, disease, phenome)

Mutations: SVs, CNVs, SNVs

Gene expression: GE, Protein, DEGE, CNV vs GE

Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG

Pharmacological Information: Drug-Gene Network

Cross referenced IDs

Gene Summary for CREBBP
Basic gene info.Gene symbolCREBBP
Gene nameCREB binding protein
SynonymsCBP|KAT3A|RSTS
CytomapUCSC genome browser: 16p13.3
Genomic locationchr16 :3775055-3930121
Type of geneprotein-coding
RefGenesNM_001079846.1,
NM_004380.2,
Ensembl idENSG00000005339
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
Gene Expression Atlas: ENSG00000005339
The Human Protein Atlas: ENSG00000005339
PathwayNCI Pathway Interaction Database: CREBBP
KEGG: CREBBP
REACTOME: CREBBP
ConsensusPathDB
Pathway Commons: CREBBP
MetabolismMetaCyc: CREBBP
HUMANCyc: CREBBP
RegulationEnsembl's Regulation: ENSG00000005339
miRBase: chr16 :3,775,055-3,930,121
TargetScan: NM_001079846
cisRED: ENSG00000005339
ContextiHOP: CREBBP
cancer metabolism search in PubMed: CREBBP
UCL Cancer Institute: CREBBP
Assigned class in ccmGDBA - This gene has a literature evidence and it belongs to cancer gene.
References showing role of CREBBP in cancer cell metabolism1. Lastowska M, Al-Afghani H, Al-Balool HH, Sheth H, Mercer E, et al. (2013) Identification of a neuronal transcription factor network involved in medulloblastoma development. Acta Neuropathol Commun 1: 35. doi: 10.1186/2051-5960-1-35. pmid: 3893591. go to article
2. Loeffler M, Kreuz M, Haake A, Hasenclever D, Trautmann H, et al. (2015) Genomic and epigenomic co-evolution in follicular lymphomas. Leukemia 29: 456-463. doi: 10.1038/leu.2014.209. go to article
3. Song Y, Li L, Ou Y, Gao Z, Li E, et al. (2014) Identification of genomic alterations in oesophageal squamous cell cancer. Nature 509: 91-95. doi: 10.1038/nature13176. go to article
4. Green MR, Kihira S, Liu CL, Nair RV, Salari R, et al. (2015) Mutations in early follicular lymphoma progenitors are associated with suppressed antigen presentation. Proc Natl Acad Sci U S A 112: E1116-1125. doi: 10.1073/pnas.1501199112. pmid: 4364211 go to article

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Phenotypic Information for CREBBP(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: CREBBP
Familial Cancer Database: CREBBP
* This gene is included in those cancer gene databases.

.

Oncogene 1

Tumor Suppressor gene 2

Cancer Gene Census 3

CancerGenes 4

Network of Cancer Gene 5

Significant driver gene in BLCA 6, DLBCL 7,

Therapeutic Vulnerabilities in Cancer8

cf) number; DB name
1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/,
3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html,
4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php,
6 http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12965.html,
7 http://www.nature.com/nature/journal/v505/n7484/full/nature12912.html,
8Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/

check002.gifMetabolic Pathway Description
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

check002.gifOthers
OMIM 180849; phenotype.
600140; gene.
Orphanet 353277; Rubinstein-Taybi syndrome due to CREBBP mutations.
353281; Rubinstein-Taybi syndrome due to 16p13.3 microdeletion.
370026; Acute myeloid leukemia with t(8;16)(p11;p13) translocation.
DiseaseKEGG Disease: CREBBP
MedGen: CREBBP (Human Medical Genetics with Condition)
ClinVar: CREBBP
PhenotypeMGI: CREBBP (International Mouse Phenotyping Consortium)
PhenomicDB: CREBBP

Mutations for CREBBP
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram

- Statistics for Tissue and Mutation typeTop
- For Inter-chromosomal Variations
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'.
- For Intra-chromosomal Variations
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'.
SampleSymbol_aChr_aStart_aEnd_aSymbol_bChr_bStart_bEnd_b
breastCREBBPchr1638913653891365CREBBPchr1639243083924308
central_nervous_systemCREBBPchr1638798753879875CREBBPchr1637849823784982
ovaryCREBBPchr1637824383782458CREBBPchr1638595033859523
ovaryCREBBPchr1637891793789199CREBBPchr1637898083789828
ovaryCREBBPchr1637942083794228SPRED3chr193888465838884678
ovaryCREBBPchr1638129603812980CREBBPchr1637993203799340
ovaryCREBBPchr1638607773860797chr195428092654280946
ovaryCREBBPchr1638607873860807CREBBPchr1638614653861485
ovaryCREBBPchr1638611293861149CREBBPchr1638611983861218
ovaryCREBBPchr1638614663861486CREBBPchr1638603023860322
pancreasCREBBPchr1638019553801975HS3ST2chr162286656022866580
pancreasCREBBPchr1638464313846451HS3ST2chr162286679722866817
pancreasCREBBPchr1639148773914897CREBBPchr1639168043916824
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract)

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows CREBBP related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a
AA828778CREBBP11571638078833808040CREBBP1552201638078203807885
BI000845CREBBP12191637817923786109CREB3L22102967137584036137584122
AJ299262CREBBP11101639298333929942KAT6B109308107678824576788444
AJ251845CREBBP11101639298333929942KAT6A10922984179226741792387
AJ251843KAT6A118884179477441794961CREBBP18811281638435783901011
AJ251844KAT6A118884179477441794961CREBBP1884151638435783860781
DA778521EIF4E211102233415394233421174CREBBP1075611638307563832912
AJ299261KAT6B1261107678474776785007CREBBP2624261639008463901010
BG992160SIAH1284331164845476248454810CREBBP3286091637972103797493
BE156640CREBBP82191638312383832825CREBBP2143601638209233823833
H19810GGT71182203343315233437803CREBBP1834411637769783777235
BI033650SNAP252178201028779210287974CREBBP1673981637840393784271
AJ315152KAT6A126084179325941793518CREBBP2594801639269653927186
AY442917KAT6A15484179379541793848CREBBP551101639074013907456
AJ315158KAT6A127784179375941794035CREBBP2724801639258533926060
BI003567CREBBP622001638434893843628CREBBP1953021638606083860715
AJ315157CREBBP12901639260713926360KAT6A29141984179362941793757
AJ315154KAT6A134084179241441792753CREBBP3394281639267253926814
AK094404CREBBP112911639180463919337CREBBP127921761639168613917758
AY442918CREBBP1581639073473907404KAT6A5810584179385741793904
AJ315151CREBBP12111639273493927559KAT6A21146484179301841793271
BI049383CARKD624113111291696111291930CREBBP2364041638308693832739
BE701823CREBBP24981637769923777067CREBBP952261637770483777179
U89354CREBBP17441637775483778291TNR7277461175441100175441119

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr
 
Mutation type/ Tissue IDbrcacnscervendomehaematopokidnLintestliverlungnsovarypancreprostskinstomathyrourina
Total # sample7  1  1   3     1
GAIN (# sample)6         2      
LOSS (# sample)2  1  1   1     1
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract)

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check002.gifSNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation

 : Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=32

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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=414)
Stat. for Synonymous SNVs
(# total SNVs=73)
Stat. for Deletions
(# total SNVs=30)
Stat. for Insertions
(# total SNVs=12)

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check002.gifTop 10 SNVs Having the Most Samples in COSMIC data
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID.
GRCh37 positionMutation(aa)Unique sampleID count
chr16:3788618-3788618p.R1446G20
chr16:3788617-3788617p.R1446H12
chr16:3807902-3807902p.R1173*7
chr16:3786705-3786705p.W1502C7
chr16:3781328-3781330p.S1680delS6
chr16:3820773-3820773p.S893L6
chr16:3786704-3786704p.Y1503H6
chr16:3790512-3790512p.R1341*5
chr16:3786078-3786078p.R1563G5
chr16:3786703-3786703p.Y1503F5

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check002.gifSNV Counts per Each Loci in TCGA data

 : non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=5

Point Mutation/ Tissue ID1234567891011121314151617181920
# sample1475765 18 52 16187122431 26
# mutation1375784 18 52 19207122738 36
nonsynonymous SNV1164523 12 42 171561 1827 29
synonymous SNV211261 6 1  251 2911 7
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma])

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check002.gifTop 10 SNVs Having the Most Samples in TCGA data
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID.
Genomic PositionMutation(aa)Unique sampleID count
chr16:3786078p.R1525G,CREBBP5
chr16:3788618p.R1408C,CREBBP4
chr16:3778767p.P2056L,CREBBP3
chr16:3788651p.D1397H,CREBBP3
chr16:3843433p.K1282K,CREBBP2
chr16:3786763p.R1131C,CREBBP2
chr16:3900321p.Q1041R,CREBBP2
chr16:3778624p.L2104M,CREBBP2
chr16:3900364p.P722S,CREBBP2
chr16:3801786p.A259T,CREBBP2

check002.gifOther DBs for Point Mutations
Point Mutation Table of Ensembl: go to Ensembl variation table
Mutation of cBioPortal: go to cBioPortal's Cross-cancer alteration summary

check002.gifCopy Number for CREBBP in TCGA
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene.
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, 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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Gene Expression for CREBBP

check002.gifGene Expression in Cancer Cell-lines (CCLE)
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data.

check002.gifDifferential Gene Expression in Primary Tumors (TCGA)
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis.
(t test, adjusted p<0.05 (using Benjamini-Hochberg FDR))
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check002.gifCNV vs Gene Expression Plot
* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types


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Gene-Gene Network Information
check002.gifCo-Expressed gene's network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

SLX4,CRAMP1L,CREBBP,ERCC4,GLYR1,KDM3B,KIAA0430,
KIAA0556,LOC100190986,LOC100271836,LOC652276,MKL2,PDPK1,SNX29,
SMG1,SRCAP,SRRM2,THUMPD1,TNRC6A,UBN1,ZSCAN32
ARID1B,BRPF3,CHD2,CHD6,CREBBP,EP300,EP400,
GPATCH8,KDM3B,LMTK2,MDN1,MED12,KMT2A,NCOA2,
RAPGEF6,SMCR8,SPEN,SRRM2,TRRAP,ZNF142,ZNF827

ARID1B,ATXN1L,CRAMP1L,CREBBP,CTDSP2,EP300,FAM168A,
GLTSCR1L,KIAA0430,KIDINS220,MED13L,MKL2,KMT2B___KMT2D,KMT2C,
KMT2A,NFATC3,PDPK1,SMG1,SPEN,UBN1,ZNF500
ATXN1L,PRRC2B,HECTD4,CHD8,CREBBP,DIDO1,DYNC1H1,
EP300,EP400,FAM193A,GIGYF2,HERC2,HUWE1,MED12,
MED13L,KAT6A,KAT6B,NCOR2,SMARCA2,SMG6,SNRNP200
check002.gifCo-Expressed gene's Protein-protein interaction Network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

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check002.gifInteracting Genes (from Pathway Commons)

: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID

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Pharmacological Information for CREBBP
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link
ChemistryBindingDB Q92793; -.
ChemistryChEMBL CHEMBL5747; -.
ChemistryGuidetoPHARMACOLOGY 2734; -.
Organism-specific databasesPharmGKB PA26866; -.
Organism-specific databasesCTD 1387; -.

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB00619CREB binding proteinapprovedImatinib
DB01234CREB binding proteinapproved; investigationalDexamethasone
DB00864CREB binding proteinapproved; investigationalTacrolimus
DB00171CREB binding proteinapproved; nutraceuticalAdenosine triphosphate
DB00269CREB binding proteinapprovedChlorotrianisene
DB00286CREB binding proteinapprovedConjugated Estrogens
DB00890CREB binding proteinapprovedDienestrol
DB00255CREB binding proteinapprovedDiethylstilbestrol
DB00783CREB binding proteinapproved; investigationalEstradiol
DB00655CREB binding proteinapprovedEstrone
DB00977CREB binding proteinapprovedEthinyl Estradiol


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Cross referenced IDs for CREBBP
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section

: Open all cross reference information



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