Gene | Associated with RUBINSTEIN-TAYBI SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
EP300 | ClinVar, OMIM | HGNC link | 22q13.2 | 2 | 114500, PS180849 |
CREBBP | ClinVar, OMIM, HUMSAVAR | HGNC link | 16p13.3 | 2 | PS142623, PS180849 |
Download the disease annotation in CSV format
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
EP300 | CREBBP | No | 8 | RELA, TCF3, TP53, CTNNB1, MYOD1, BRCA1, STAT6, NEUROG1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Complexes | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|---|
EP300 | CREBBP | Yes | p300-CBP-p270 complex;p300-CBP-p270-SWI/SNF complex;Multisubunit ACTR coactivator complex;HES1 promoter corepressor complex | 17 | SMARCC1, KAT2B, RBPJ, SMARCA4, TCF4, SMARCB1, NCOA3, POLR2A, CDK8, SMAD1, SMARCC2, SMAD3, SUPT6H, CTNNB1, MYOD1, ARID1A, CDK7 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Interaction | Number of common interactors | Common genes in interaction |
---|---|---|---|---|
EP300 | CREBBP | No | 1 | TP53 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Renal cell carcinoma | hsa05211 | 6.6 | 2 | CREBBP, EP300 |
cAMP signaling pathway | hsa04024 | 5.05 | 2 | CREBBP, EP300 |
Prostate cancer | hsa05215 | 6.11 | 2 | CREBBP, EP300 |
Long-term potentiation | hsa04720 | 6.64 | 2 | CREBBP, EP300 |
FoxO signaling pathway | hsa04068 | 5.63 | 2 | CREBBP, EP300 |
HIF-1 signaling pathway | hsa04066 | 5.9 | 2 | CREBBP, EP300 |
Thyroid hormone signaling pathway | hsa04919 | 5.82 | 2 | CREBBP, EP300 |
Notch signaling pathway | hsa04330 | 7.12 | 2 | CREBBP, EP300 |
Herpes simplex infection | hsa05168 | 5.08 | 2 | CREBBP, EP300 |
Epstein-Barr virus infection | hsa05169 | 4.97 | 2 | CREBBP, EP300 |
Influenza A | hsa05164 | 5.21 | 2 | CREBBP, EP300 |
HTLV-I infection | hsa05166 | 4.59 | 2 | CREBBP, EP300 |
Wnt signaling pathway | hsa04310 | 5.49 | 2 | CREBBP, EP300 |
Hepatitis B | hsa05161 | 5.52 | 2 | CREBBP, EP300 |
TGF-beta signaling pathway | hsa04350 | 6.41 | 2 | CREBBP, EP300 |
Cell cycle | hsa04110 | 5.68 | 2 | CREBBP, EP300 |
MicroRNAs in cancer | hsa05206 | 5.38 | 2 | CREBBP, EP300 |
Pathways in cancer | hsa05200 | 3.98 | 2 | CREBBP, EP300 |
Viral carcinogenesis | hsa05203 | 5.08 | 2 | CREBBP, EP300 |
Adherens junction | hsa04520 | 6.26 | 2 | CREBBP, EP300 |
Melanogenesis | hsa04916 | 5.97 | 2 | CREBBP, EP300 |
Jak-STAT signaling pathway | hsa04630 | 5.44 | 2 | CREBBP, EP300 |
Tuberculosis | hsa05152 | 5.17 | 2 | CREBBP, EP300 |
Huntington's disease | hsa05016 | 5.17 | 2 | CREBBP, EP300 |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Transcriptional regulation of white adipocyte differentiation | R-HSA-381340 | 6.7 | 2 | CREBBP, EP300 |
Immune System | R-HSA-168256 | 2.37 | 2 | CREBBP, EP300 |
Signaling by NOTCH | R-HSA-157118 | 6.2 | 2 | CREBBP, EP300 |
Metabolism | R-HSA-1430728 | 2.34 | 2 | CREBBP, EP300 |
Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 | 2 | CREBBP, EP300 |
Factors involved in megakaryocyte development and platelet production | R-HSA-983231 | 5.88 | 2 | CREBBP, EP300 |
Disease | R-HSA-1643685 | 3.33 | 2 | CREBBP, EP300 |
PPARA activates gene expression | R-HSA-1989781 | 6.18 | 2 | CREBBP, EP300 |
TRAF3-dependent IRF activation pathway | R-HSA-918233 | 9.18 | 2 | CREBBP, EP300 |
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | R-HSA-400206 | 6.14 | 2 | CREBBP, EP300 |
RORA activates gene expression | R-HSA-1368082 | 8.23 | 2 | CREBBP, EP300 |
Cellular responses to stress | R-HSA-2262752 | 4.56 | 2 | CREBBP, EP300 |
HATs acetylate histones | R-HSA-3214847 | 6.23 | 2 | CREBBP, EP300 |
Attenuation phase | R-HSA-3371568 | 9.28 | 2 | CREBBP, EP300 |
Developmental Biology | R-HSA-1266738 | 3.48 | 2 | CREBBP, EP300 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 | 2 | CREBBP, EP300 |
Hemostasis | R-HSA-109582 | 3.98 | 2 | CREBBP, EP300 |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | R-HSA-2894862 | 7.15 | 2 | CREBBP, EP300 |
C-type lectin receptors (CLRs) | R-HSA-5621481 | 6.06 | 2 | CREBBP, EP300 |
TRAF6 mediated IRF7 activation | R-HSA-933541 | 7.98 | 2 | CREBBP, EP300 |
Regulation of gene expression by Hypoxia-inducible Factor | R-HSA-1234158 | 9.81 | 2 | CREBBP, EP300 |
Diseases of signal transduction | R-HSA-5663202 | 4.89 | 2 | CREBBP, EP300 |
Signaling by NOTCH1 | R-HSA-1980143 | 6.81 | 2 | CREBBP, EP300 |
Innate Immune System | R-HSA-168249 | 3.17 | 2 | CREBBP, EP300 |
Regulation of Hypoxia-inducible Factor (HIF) by oxygen | R-HSA-1234174 | 8.4 | 2 | CREBBP, EP300 |
HSF1-dependent transactivation | R-HSA-3371571 | 8.59 | 2 | CREBBP, EP300 |
Signaling by Wnt | R-HSA-195721 | 4.79 | 2 | CREBBP, EP300 |
NOTCH1 Intracellular Domain Regulates Transcription | R-HSA-2122947 | 7.43 | 2 | CREBBP, EP300 |
Cytosolic sensors of pathogen-associated DNA | R-HSA-1834949 | 6.94 | 2 | CREBBP, EP300 |
Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 | 2 | CREBBP, EP300 |
BMAL1:CLOCK,NPAS2 activates circadian gene expression | R-HSA-1368108 | 7.59 | 2 | CREBBP, EP300 |
Chromatin modifying enzymes | R-HSA-3247509 | 5.19 | 2 | CREBBP, EP300 |
Circadian Clock | R-HSA-400253 | 7.03 | 2 | CREBBP, EP300 |
Cellular response to hypoxia | R-HSA-2262749 | 8.4 | 2 | CREBBP, EP300 |
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production | R-HSA-3134973 | 10.66 | 2 | CREBBP, EP300 |
formation of the beta-catenin:TCF transactivating complex | R-HSA-201722 | 7.18 | 2 | CREBBP, EP300 |
Signaling by NOTCH1 in Cancer | R-HSA-2644603 | 7.15 | 2 | CREBBP, EP300 |
Signaling by NOTCH1 PEST Domain Mutants in Cancer | R-HSA-2644602 | 7.15 | 2 | CREBBP, EP300 |
Constitutive Signaling by NOTCH1 PEST Domain Mutants | R-HSA-2644606 | 7.15 | 2 | CREBBP, EP300 |
CD209 (DC-SIGN) signaling | R-HSA-5621575 | 8.59 | 2 | CREBBP, EP300 |
Cellular response to heat stress | R-HSA-3371556 | 6.59 | 2 | CREBBP, EP300 |
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer | R-HSA-2894858 | 7.15 | 2 | CREBBP, EP300 |
Chromatin organization | R-HSA-4839726 | 5.19 | 2 | CREBBP, EP300 |
TCF dependent signaling in response to WNT | R-HSA-201681 | 5.36 | 2 | CREBBP, EP300 |
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | R-HSA-168928 | 6.7 | 2 | CREBBP, EP300 |
Pre-NOTCH Transcription and Translation | R-HSA-1912408 | 8.12 | 2 | CREBBP, EP300 |
Signal Transduction | R-HSA-162582 | 1.78 | 2 | CREBBP, EP300 |