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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CREBBP |
Basic gene info. | Gene symbol | CREBBP |
Gene name | CREB binding protein | |
Synonyms | CBP|KAT3A|RSTS | |
Cytomap | UCSC genome browser: 16p13.3 | |
Genomic location | chr16 :3775055-3930121 | |
Type of gene | protein-coding | |
RefGenes | NM_001079846.1, NM_004380.2, | |
Ensembl id | ENSG00000005339 | |
Description | CREB-binding protein | |
Modification date | 20141219 | |
dbXrefs | MIM : 600140 | |
HGNC : HGNC | ||
Ensembl : ENSG00000005339 | ||
HPRD : 02534 | ||
Vega : OTTHUMG00000129431 | ||
Protein | UniProt: Q92793 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CREBBP | |
BioGPS: 1387 | ||
Gene Expression Atlas: ENSG00000005339 | ||
The Human Protein Atlas: ENSG00000005339 | ||
Pathway | NCI Pathway Interaction Database: CREBBP | |
KEGG: CREBBP | ||
REACTOME: CREBBP | ||
ConsensusPathDB | ||
Pathway Commons: CREBBP | ||
Metabolism | MetaCyc: CREBBP | |
HUMANCyc: CREBBP | ||
Regulation | Ensembl's Regulation: ENSG00000005339 | |
miRBase: chr16 :3,775,055-3,930,121 | ||
TargetScan: NM_001079846 | ||
cisRED: ENSG00000005339 | ||
Context | iHOP: CREBBP | |
cancer metabolism search in PubMed: CREBBP | ||
UCL Cancer Institute: CREBBP | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of CREBBP in cancer cell metabolism | 1. 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) |
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Cancer | CGAP: CREBBP |
Familial Cancer Database: CREBBP |
* This gene is included in those cancer gene databases. |
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Oncogene 1 |
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/ |
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REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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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. |
Disease | KEGG Disease: CREBBP |
MedGen: CREBBP (Human Medical Genetics with Condition) | |
ClinVar: CREBBP | |
Phenotype | MGI: 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. |
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- Statistics for Tissue and Mutation type | Top |
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- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
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- 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'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
breast | CREBBP | chr16 | 3891365 | 3891365 | CREBBP | chr16 | 3924308 | 3924308 |
central_nervous_system | CREBBP | chr16 | 3879875 | 3879875 | CREBBP | chr16 | 3784982 | 3784982 |
ovary | CREBBP | chr16 | 3782438 | 3782458 | CREBBP | chr16 | 3859503 | 3859523 |
ovary | CREBBP | chr16 | 3789179 | 3789199 | CREBBP | chr16 | 3789808 | 3789828 |
ovary | CREBBP | chr16 | 3794208 | 3794228 | SPRED3 | chr19 | 38884658 | 38884678 |
ovary | CREBBP | chr16 | 3812960 | 3812980 | CREBBP | chr16 | 3799320 | 3799340 |
ovary | CREBBP | chr16 | 3860777 | 3860797 | chr19 | 54280926 | 54280946 | |
ovary | CREBBP | chr16 | 3860787 | 3860807 | CREBBP | chr16 | 3861465 | 3861485 |
ovary | CREBBP | chr16 | 3861129 | 3861149 | CREBBP | chr16 | 3861198 | 3861218 |
ovary | CREBBP | chr16 | 3861466 | 3861486 | CREBBP | chr16 | 3860302 | 3860322 |
pancreas | CREBBP | chr16 | 3801955 | 3801975 | HS3ST2 | chr16 | 22866560 | 22866580 |
pancreas | CREBBP | chr16 | 3846431 | 3846451 | HS3ST2 | chr16 | 22866797 | 22866817 |
pancreas | CREBBP | chr16 | 3914877 | 3914897 | CREBBP | chr16 | 3916804 | 3916824 |
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) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows CREBBP related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
AA828778 | CREBBP | 1 | 157 | 16 | 3807883 | 3808040 | CREBBP | 155 | 220 | 16 | 3807820 | 3807885 | |
BI000845 | CREBBP | 1 | 219 | 16 | 3781792 | 3786109 | CREB3L2 | 210 | 296 | 7 | 137584036 | 137584122 | |
AJ299262 | CREBBP | 1 | 110 | 16 | 3929833 | 3929942 | KAT6B | 109 | 308 | 10 | 76788245 | 76788444 | |
AJ251845 | CREBBP | 1 | 110 | 16 | 3929833 | 3929942 | KAT6A | 109 | 229 | 8 | 41792267 | 41792387 | |
AJ251843 | KAT6A | 1 | 188 | 8 | 41794774 | 41794961 | CREBBP | 188 | 1128 | 16 | 3843578 | 3901011 | |
AJ251844 | KAT6A | 1 | 188 | 8 | 41794774 | 41794961 | CREBBP | 188 | 415 | 16 | 3843578 | 3860781 | |
DA778521 | EIF4E2 | 1 | 110 | 2 | 233415394 | 233421174 | CREBBP | 107 | 561 | 16 | 3830756 | 3832912 | |
AJ299261 | KAT6B | 1 | 261 | 10 | 76784747 | 76785007 | CREBBP | 262 | 426 | 16 | 3900846 | 3901010 | |
BG992160 | SIAH1 | 284 | 331 | 16 | 48454762 | 48454810 | CREBBP | 328 | 609 | 16 | 3797210 | 3797493 | |
BE156640 | CREBBP | 8 | 219 | 16 | 3831238 | 3832825 | CREBBP | 214 | 360 | 16 | 3820923 | 3823833 | |
H19810 | GGT7 | 1 | 182 | 20 | 33433152 | 33437803 | CREBBP | 183 | 441 | 16 | 3776978 | 3777235 | |
BI033650 | SNAP25 | 2 | 178 | 20 | 10287792 | 10287974 | CREBBP | 167 | 398 | 16 | 3784039 | 3784271 | |
AJ315152 | KAT6A | 1 | 260 | 8 | 41793259 | 41793518 | CREBBP | 259 | 480 | 16 | 3926965 | 3927186 | |
AY442917 | KAT6A | 1 | 54 | 8 | 41793795 | 41793848 | CREBBP | 55 | 110 | 16 | 3907401 | 3907456 | |
AJ315158 | KAT6A | 1 | 277 | 8 | 41793759 | 41794035 | CREBBP | 272 | 480 | 16 | 3925853 | 3926060 | |
BI003567 | CREBBP | 62 | 200 | 16 | 3843489 | 3843628 | CREBBP | 195 | 302 | 16 | 3860608 | 3860715 | |
AJ315157 | CREBBP | 1 | 290 | 16 | 3926071 | 3926360 | KAT6A | 291 | 419 | 8 | 41793629 | 41793757 | |
AJ315154 | KAT6A | 1 | 340 | 8 | 41792414 | 41792753 | CREBBP | 339 | 428 | 16 | 3926725 | 3926814 | |
AK094404 | CREBBP | 1 | 1291 | 16 | 3918046 | 3919337 | CREBBP | 1279 | 2176 | 16 | 3916861 | 3917758 | |
AY442918 | CREBBP | 1 | 58 | 16 | 3907347 | 3907404 | KAT6A | 58 | 105 | 8 | 41793857 | 41793904 | |
AJ315151 | CREBBP | 1 | 211 | 16 | 3927349 | 3927559 | KAT6A | 211 | 464 | 8 | 41793018 | 41793271 | |
BI049383 | CARKD | 6 | 241 | 13 | 111291696 | 111291930 | CREBBP | 236 | 404 | 16 | 3830869 | 3832739 | |
BE701823 | CREBBP | 24 | 98 | 16 | 3776992 | 3777067 | CREBBP | 95 | 226 | 16 | 3777048 | 3777179 | |
U89354 | CREBBP | 1 | 744 | 16 | 3777548 | 3778291 | TNR | 727 | 746 | 1 | 175441100 | 175441119 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 7 |   |   | 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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Stat. for Non-Synonymous SNVs (# total SNVs=414) | (# total SNVs=73) |
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(# total SNVs=30) | (# total SNVs=12) |
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* 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 position | Mutation(aa) | Unique sampleID count |
chr16:3788618-3788618 | p.R1446G | 20 |
chr16:3788617-3788617 | p.R1446H | 12 |
chr16:3807902-3807902 | p.R1173* | 7 |
chr16:3786705-3786705 | p.W1502C | 7 |
chr16:3781328-3781330 | p.S1680delS | 6 |
chr16:3820773-3820773 | p.S893L | 6 |
chr16:3786704-3786704 | p.Y1503H | 6 |
chr16:3790512-3790512 | p.R1341* | 5 |
chr16:3786078-3786078 | p.R1563G | 5 |
chr16:3786703-3786703 | p.Y1503F | 5 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 14 | 7 | 5 | 76 | 5 |   | 18 |   | 5 | 2 |   | 16 | 18 | 7 | 1 | 2 | 24 | 31 |   | 26 |
# mutation | 13 | 7 | 5 | 78 | 4 |   | 18 |   | 5 | 2 |   | 19 | 20 | 7 | 1 | 2 | 27 | 38 |   | 36 |
nonsynonymous SNV | 11 | 6 | 4 | 52 | 3 |   | 12 |   | 4 | 2 |   | 17 | 15 | 6 | 1 |   | 18 | 27 |   | 29 |
synonymous SNV | 2 | 1 | 1 | 26 | 1 |   | 6 |   | 1 |   |   | 2 | 5 | 1 |   | 2 | 9 | 11 |   | 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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* 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 Position | Mutation(aa) | Unique sampleID count |
chr16:3786078 | p.R1525G,CREBBP | 5 |
chr16:3788618 | p.R1408C,CREBBP | 4 |
chr16:3778767 | p.P2056L,CREBBP | 3 |
chr16:3788651 | p.D1397H,CREBBP | 3 |
chr16:3843433 | p.K1282K,CREBBP | 2 |
chr16:3786763 | p.R1131C,CREBBP | 2 |
chr16:3900321 | p.Q1041R,CREBBP | 2 |
chr16:3778624 | p.L2104M,CREBBP | 2 |
chr16:3900364 | p.P722S,CREBBP | 2 |
chr16:3801786 | p.A259T,CREBBP | 2 |
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* 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. |
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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 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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 |
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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 | ||||
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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 |
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* 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 |
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Pharmacological Information for CREBBP |
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DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | Q92793; -. |
Chemistry | ChEMBL | CHEMBL5747; -. |
Chemistry | GuidetoPHARMACOLOGY | 2734; -. |
Organism-specific databases | PharmGKB | PA26866; -. |
Organism-specific databases | CTD | 1387; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00619 | CREB binding protein | approved | Imatinib | ![]() | ![]() |
DB01234 | CREB binding protein | approved; investigational | Dexamethasone | ![]() | ![]() |
DB00864 | CREB binding protein | approved; investigational | Tacrolimus | ![]() | ![]() |
DB00171 | CREB binding protein | approved; nutraceutical | Adenosine triphosphate | ![]() | ![]() |
DB00269 | CREB binding protein | approved | Chlorotrianisene | ![]() | ![]() |
DB00286 | CREB binding protein | approved | Conjugated Estrogens | ![]() | ![]() |
DB00890 | CREB binding protein | approved | Dienestrol | ![]() | ![]() |
DB00255 | CREB binding protein | approved | Diethylstilbestrol | ![]() | ![]() |
DB00783 | CREB binding protein | approved; investigational | Estradiol | ![]() | ![]() |
DB00655 | CREB binding protein | approved | Estrone | ![]() | ![]() |
DB00977 | CREB binding protein | approved | Ethinyl 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 |
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