Details for: CREBBP
Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: anterior lens cell (CL0002223)
Fold Change: 2.7
Marker Score: 3628 - Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: 2.63
Marker Score: 10954 - Cell Name: taste receptor cell (CL0000209)
Fold Change: 2.58
Marker Score: 2227 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 2.52
Marker Score: 53771 - Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 2.52
Marker Score: 2899 - Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 2.33
Marker Score: 4487 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 2.31
Marker Score: 5069.5 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 2.31
Marker Score: 2791 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 2.26
Marker Score: 33844 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 2.24
Marker Score: 9387 - Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 2.19
Marker Score: 83192 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 2.17
Marker Score: 43119 - Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 2.16
Marker Score: 16568 - Cell Name: cardiac neuron (CL0010022)
Fold Change: 2.13
Marker Score: 2648 - Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 2.09
Marker Score: 1039 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 2.06
Marker Score: 1018 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 2.04
Marker Score: 8475 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 2.03
Marker Score: 74895 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 2.02
Marker Score: 591 - Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 2.01
Marker Score: 10527 - Cell Name: mesangial cell (CL0000650)
Fold Change: 1.99
Marker Score: 2400 - Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.98
Marker Score: 7671 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.98
Marker Score: 1180 - Cell Name: neuron (CL0000540)
Fold Change: 1.96
Marker Score: 7988 - Cell Name: photoreceptor cell (CL0000210)
Fold Change: 1.95
Marker Score: 1466 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.94
Marker Score: 2138 - Cell Name: neuronal brush cell (CL0000555)
Fold Change: 1.93
Marker Score: 6476 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.93
Marker Score: 118638 - Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 1.93
Marker Score: 2060 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 1.92
Marker Score: 2172 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 1.92
Marker Score: 18025 - Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: 1.91
Marker Score: 1696 - Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 1.87
Marker Score: 8633 - Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 1.86
Marker Score: 2010 - Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 1.84
Marker Score: 1029 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 1.83
Marker Score: 32412 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.81
Marker Score: 1902 - Cell Name: oligodendrocyte (CL0000128)
Fold Change: 1.8
Marker Score: 4311 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.8
Marker Score: 17101 - Cell Name: fat cell (CL0000136)
Fold Change: 1.8
Marker Score: 1005 - Cell Name: epithelial cell of prostate (CL0002231)
Fold Change: 1.79
Marker Score: 1243 - Cell Name: alveolar type 2 fibroblast cell (CL4028006)
Fold Change: 1.78
Marker Score: 989 - Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 1.77
Marker Score: 1030 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.76
Marker Score: 15134 - Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 1.76
Marker Score: 1679 - Cell Name: stellate neuron (CL0000122)
Fold Change: 1.74
Marker Score: 9333 - Cell Name: chromaffin cell (CL0000166)
Fold Change: 1.73
Marker Score: 2430.5 - Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 1.72
Marker Score: 908 - Cell Name: renal principal cell (CL0005009)
Fold Change: 1.66
Marker Score: 1277 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 1.66
Marker Score: 55964 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.66
Marker Score: 17099 - Cell Name: acinar cell (CL0000622)
Fold Change: 1.63
Marker Score: 1151 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 1.62
Marker Score: 1065 - Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 1.6
Marker Score: 1982 - Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 1.6
Marker Score: 407 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 1.59
Marker Score: 932 - Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 1.59
Marker Score: 35501 - Cell Name: lung goblet cell (CL1000143)
Fold Change: 1.57
Marker Score: 452 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 1.56
Marker Score: 492 - Cell Name: contractile cell (CL0000183)
Fold Change: 1.55
Marker Score: 842 - Cell Name: lactocyte (CL0002325)
Fold Change: 1.55
Marker Score: 24900 - Cell Name: astrocyte (CL0000127)
Fold Change: 1.55
Marker Score: 1342 - Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 1.54
Marker Score: 2240 - Cell Name: hepatoblast (CL0005026)
Fold Change: 1.54
Marker Score: 5029 - Cell Name: cholangiocyte (CL1000488)
Fold Change: 1.53
Marker Score: 573 - Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 1.5
Marker Score: 3686 - Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
Fold Change: 1.5
Marker Score: 646 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.5
Marker Score: 2310 - Cell Name: mature astrocyte (CL0002627)
Fold Change: 1.49
Marker Score: 980 - Cell Name: granule cell (CL0000120)
Fold Change: 1.48
Marker Score: 11180 - Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 1.48
Marker Score: 718 - Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 1.47
Marker Score: 4199.5 - Cell Name: macroglial cell (CL0000126)
Fold Change: 1.45
Marker Score: 3340 - Cell Name: mature microglial cell (CL0002629)
Fold Change: 1.45
Marker Score: 525 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 1.44
Marker Score: 3616.5 - Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.44
Marker Score: 605 - Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 1.44
Marker Score: 2041 - Cell Name: syncytiotrophoblast cell (CL0000525)
Fold Change: 1.43
Marker Score: 1177 - Cell Name: GABAergic neuron (CL0000617)
Fold Change: 1.42
Marker Score: 5912 - Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 1.4
Marker Score: 815 - Cell Name: keratocyte (CL0002363)
Fold Change: 1.39
Marker Score: 320 - Cell Name: podocyte (CL0000653)
Fold Change: 1.38
Marker Score: 511 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 1.38
Marker Score: 468 - Cell Name: endocrine cell (CL0000163)
Fold Change: 1.36
Marker Score: 705 - Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 1.35
Marker Score: 900 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 1.34
Marker Score: 517 - Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 1.34
Marker Score: 913 - Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 1.32
Marker Score: 481 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 1.32
Marker Score: 45070 - Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.32
Marker Score: 3120 - Cell Name: CNS interneuron (CL0000402)
Fold Change: 1.31
Marker Score: 628 - Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 1.3
Marker Score: 1381 - Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 1.29
Marker Score: 488 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 1.29
Marker Score: 8320 - Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
Fold Change: 1.28
Marker Score: 1371 - Cell Name: melanocyte (CL0000148)
Fold Change: 1.27
Marker Score: 516 - Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 1.27
Marker Score: 1169 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 1.27
Marker Score: 11166 - Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 1.27
Marker Score: 403 - Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 1.26
Marker Score: 4672
Hover over a box to see details here...
Hover over a box to see details here...
Hover over a box to see details here...
Other Information
Genular Protein ID: 704184725
Symbol: CBP_HUMAN
Name: CREB-binding protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9238046
Title: MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3).
PubMed ID: 9238046
PubMed ID: 9177780
Title: Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.
PubMed ID: 9177780
PubMed ID: 8782817
Title: The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein.
PubMed ID: 8782817
DOI: 10.1038/ng0996-33
PubMed ID: 11157802
Title: Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).
PubMed ID: 11157802
DOI: 10.1093/hmg/10.4.395
PubMed ID: 8684459
Title: A p300/CBP-associated factor that competes with the adenoviral oncoprotein E1A.
PubMed ID: 8684459
DOI: 10.1038/382319a0
PubMed ID: 8917528
Title: An essential role for p300/CBP in the cellular response to hypoxia.
PubMed ID: 8917528
PubMed ID: 9323138
Title: RNA helicase A mediates association of CBP with RNA polymerase II.
PubMed ID: 9323138
PubMed ID: 9528808
Title: Differential transcriptional activation by human T-cell leukemia virus type 1 Tax mutants is mediated by distinct interactions with CREB binding protein and p300.
PubMed ID: 9528808
PubMed ID: 9707565
Title: Acetylation and modulation of erythroid Krueppel-like factor (EKLF) activity by interaction with histone acetyltransferases.
PubMed ID: 9707565
PubMed ID: 10347196
Title: Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein.
PubMed ID: 10347196
PubMed ID: 10077561
Title: Modulation of CREB binding protein function by the promyelocytic (PML) oncoprotein suggests a role for nuclear bodies in hormone signaling.
PubMed ID: 10077561
PubMed ID: 10490106
Title: Regulation of hormone-induced histone hyperacetylation and gene activation via acetylation of an acetylase.
PubMed ID: 10490106
PubMed ID: 10722728
Title: The MSG1 non-DNA-binding transactivator binds to the p300/CBP coactivators, enhancing their functional link to the Smad transcription factors.
PubMed ID: 10722728
PubMed ID: 10866662
Title: A new family of nuclear receptor coregulators that integrates nuclear receptor signaling through CBP.
PubMed ID: 10866662
PubMed ID: 11154691
Title: Stimulation of NF-E2 DNA binding by CREB-binding protein (CBP)-mediated acetylation.
PubMed ID: 11154691
PubMed ID: 11514544
Title: Requirement of two NFATc4 transactivation domains for CBP potentiation.
PubMed ID: 11514544
PubMed ID: 11568182
Title: Interaction of EVI1 with cAMP-responsive element-binding protein-binding protein (CBP) and p300/CBP-associated factor (P/CAF) results in reversible acetylation of EVI1 and in co-localization in nuclear speckles.
PubMed ID: 11568182
PubMed ID: 11463834
Title: The oncoprotein Tax binds the SRC-1-interacting domain of CBP/p300 to mediate transcriptional activation.
PubMed ID: 11463834
PubMed ID: 11559821
Title: Human T-lymphotropic virus type 1 p30(II) regulates gene transcription by binding CREB binding protein/p300.
PubMed ID: 11559821
PubMed ID: 11349124
Title: A novel zinc finger protein TReP-132 interacts with CBP/p300 to regulate human CYP11A1 gene expression.
PubMed ID: 11349124
PubMed ID: 11481323
Title: Molecular cloning and characterization of PELP1, a novel human coregulator of estrogen receptor alpha.
PubMed ID: 11481323
PubMed ID: 11314014
Title: HHV-8 encoded vIRF-1 represses the interferon antiviral response by blocking IRF-3 recruitment of the CBP/p300 coactivators.
PubMed ID: 11314014
PubMed ID: 11864910
Title: Interaction between the hematopoietic Ets transcription factor Spi-B and the coactivator CREB-binding protein associated with negative cross-talk with c-Myb.
PubMed ID: 11864910
PubMed ID: 11744733
Title: Human CREB-binding protein/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2.
PubMed ID: 11744733
PubMed ID: 11971985
Title: Regulation of SRC-3 (pCIP/ACTR/AIB-1/RAC-3/TRAM-1) coactivator activity by I kappa B kinase.
PubMed ID: 11971985
PubMed ID: 12738767
Title: Interferon regulatory factor-2 regulates cell growth through its acetylation.
PubMed ID: 12738767
PubMed ID: 12730195
Title: Identification and characterization of BCL-3-binding protein: implications for transcription and DNA repair or recombination.
PubMed ID: 12730195
PubMed ID: 12929931
Title: P300/CBP acts as a coactivator to cartilage homeoprotein-1 (Cart1), paired-like homeoprotein, through acetylation of the conserved lysine residue adjacent to the homeodomain.
PubMed ID: 12929931
PubMed ID: 14645221
Title: Histone acetyltransferase-dependent chromatin remodeling and the vascular clock.
PubMed ID: 14645221
PubMed ID: 15075319
Title: Positive and negative modulation of the transcriptional activity of the ETS factor ESE-1 through interaction with p300, CREB-binding protein, and Ku 70/86.
PubMed ID: 15075319
PubMed ID: 15126506
Title: FOXO4 is acetylated upon peroxide stress and deacetylated by the longevity protein hSir2(SIRT1).
PubMed ID: 15126506
PubMed ID: 15488321
Title: The calcium-responsive transactivator recruits CREB binding protein to nuclear bodies.
PubMed ID: 15488321
PubMed ID: 15220471
Title: Silent information regulator 2 potentiates Foxo1-mediated transcription through its deacetylase activity.
PubMed ID: 15220471
PubMed ID: 14716005
Title: Dendrite development regulated by CREST, a calcium-regulated transcriptional activator.
PubMed ID: 14716005
PubMed ID: 17434128
Title: Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB.
PubMed ID: 17434128
PubMed ID: 17525332
Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
PubMed ID: 17525332
PubMed ID: 18316612
Title: Molecular basis of nuclear factor-kappaB activation by astrocyte elevated gene-1.
PubMed ID: 18316612
PubMed ID: 18599479
Title: An interaction between the human T cell leukemia virus type 1 basic leucine zipper factor (HBZ) and the KIX domain of p300/CBP contributes to the down-regulation of tax-dependent viral transcription by HBZ.
PubMed ID: 18599479
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24207024
Title: Repression of RNA polymerase I upon stress is caused by inhibition of RNA-dependent deacetylation of PAF53 by SIRT7.
PubMed ID: 24207024
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 24129315
Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
PubMed ID: 24129315
PubMed ID: 24939902
Title: CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis.
PubMed ID: 24939902
DOI: 10.1093/nar/gku533
PubMed ID: 25514493
Title: Pokemon (FBI-1) interacts with Smad4 to repress TGF-beta-induced transcriptional responses.
PubMed ID: 25514493
PubMed ID: 25593309
Title: Screen identifies bromodomain protein ZMYND8 in chromatin recognition of transcription-associated DNA damage that promotes homologous recombination.
PubMed ID: 25593309
PubMed ID: 26951377
Title: DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.
PubMed ID: 26951377
DOI: 10.1093/nar/gkw141
PubMed ID: 28790157
Title: SIRT7 and the DEAD-box helicase DDX21 cooperate to resolve genomic R loops and safeguard genome stability.
PubMed ID: 28790157
PubMed ID: 28128295
Title: RNA helicase DDX3 maintains lipid homeostasis through upregulation of the microsomal triglyceride transfer protein by interacting with HNF4 and SHP.
PubMed ID: 28128295
DOI: 10.1038/srep41452
PubMed ID: 30540930
Title: SIRT7-dependent deacetylation of fibrillarin controls histone H2A methylation and rRNA synthesis during the cell cycle.
PubMed ID: 30540930
PubMed ID: 35675826
Title: Deubiquitinase OTUD3 regulates metabolism homeostasis in response to nutritional stresses.
PubMed ID: 35675826
PubMed ID: 11959977
Title: Structural basis for Hif-1 alpha /CBP recognition in the cellular hypoxic response.
PubMed ID: 11959977
PubMed ID: 11742995
Title: Activation of AML1-mediated transcription by MOZ and inhibition by the MOZ-CBP fusion protein.
PubMed ID: 11742995
PubMed ID: 14744133
Title: NMR mapping of the HIV-1 Tat interaction surface of the KIX domain of the human coactivator CBP.
PubMed ID: 14744133
DOI: 10.1021/bi035612l
PubMed ID: 22464331
Title: Histone recognition and large-scale structural analysis of the human bromodomain family.
PubMed ID: 22464331
PubMed ID: 23651431
Title: Allosteric communication in the KIX domain proceeds through dynamic repacking of the hydrophobic core.
PubMed ID: 23651431
DOI: 10.1021/cb4002188
PubMed ID: 24616510
Title: Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation.
PubMed ID: 24616510
PubMed ID: 24361270
Title: Structural insights into acetylated-histone H4 recognition by the bromodomain-PHD finger module of human transcriptional coactivator CBP.
PubMed ID: 24361270
PubMed ID: 27302953
Title: Structural basis for concerted recruitment and activation of IRF-3 by innate immune adaptor proteins.
PubMed ID: 27302953
PubMed ID: 11331617
Title: Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
PubMed ID: 11331617
PubMed ID: 12114483
Title: Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
PubMed ID: 12114483
DOI: 10.1136/jmg.39.7.496
PubMed ID: 12566391
Title: Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
PubMed ID: 12566391
DOI: 10.1093/hmg/ddg039
PubMed ID: 15706485
Title: Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
PubMed ID: 15706485
DOI: 10.1086/429130
PubMed ID: 20684013
Title: Inheritance and variable expression in Rubinstein-Taybi syndrome.
PubMed ID: 20684013
DOI: 10.1002/ajmg.a.33598
PubMed ID: 25388907
Title: Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
PubMed ID: 25388907
DOI: 10.1111/cge.12537
PubMed ID: 27311832
Title: CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
PubMed ID: 27311832
DOI: 10.1002/ajmg.a.37800
PubMed ID: 29460469
Title: Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
PubMed ID: 29460469
DOI: 10.1002/ajmg.a.38626
PubMed ID: 30737887
Title: Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
PubMed ID: 30737887
DOI: 10.1002/ajmg.a.61052
Sequence Information:
- Length: 2442
- Mass: 265351
- Checksum: 3BEA9B8558BA1A5E
- Sequence:
MAENLLDGPP NPKRAKLSSP GFSANDSTDF GSLFDLENDL PDELIPNGGE LGLLNSGNLV PDAASKHKQL SELLRGGSGS SINPGIGNVS ASSPVQQGLG GQAQGQPNSA NMASLSAMGK SPLSQGDSSA PSLPKQAAST SGPTPAASQA LNPQAQKQVG LATSSPATSQ TGPGICMNAN FNQTHPGLLN SNSGHSLINQ ASQGQAQVMN GSLGAAGRGR GAGMPYPTPA MQGASSSVLA ETLTQVSPQM TGHAGLNTAQ AGGMAKMGIT GNTSPFGQPF SQAGGQPMGA TGVNPQLASK QSMVNSLPTF PTDIKNTSVT NVPNMSQMQT SVGIVPTQAI ATGPTADPEK RKLIQQQLVL LLHAHKCQRR EQANGEVRAC SLPHCRTMKN VLNHMTHCQA GKACQVAHCA SSRQIISHWK NCTRHDCPVC LPLKNASDKR NQQTILGSPA SGIQNTIGSV GTGQQNATSL SNPNPIDPSS MQRAYAALGL PYMNQPQTQL QPQVPGQQPA QPQTHQQMRT LNPLGNNPMN IPAGGITTDQ QPPNLISESA LPTSLGATNP LMNDGSNSGN IGTLSTIPTA APPSSTGVRK GWHEHVTQDL RSHLVHKLVQ AIFPTPDPAA LKDRRMENLV AYAKKVEGDM YESANSRDEY YHLLAEKIYK IQKELEEKRR SRLHKQGILG NQPALPAPGA QPPVIPQAQP VRPPNGPLSL PVNRMQVSQG MNSFNPMSLG NVQLPQAPMG PRAASPMNHS VQMNSMGSVP GMAISPSRMP QPPNMMGAHT NNMMAQAPAQ SQFLPQNQFP SSSGAMSVGM GQPPAQTGVS QGQVPGAALP NPLNMLGPQA SQLPCPPVTQ SPLHPTPPPA STAAGMPSLQ HTTPPGMTPP QPAAPTQPST PVSSSGQTPT PTPGSVPSAT QTQSTPTVQA AAQAQVTPQP QTPVQPPSVA TPQSSQQQPT PVHAQPPGTP LSQAAASIDN RVPTPSSVAS AETNSQQPGP DVPVLEMKTE TQAEDTEPDP GESKGEPRSE MMEEDLQGAS QVKEETDIAE QKSEPMEVDE KKPEVKVEVK EEEESSSNGT ASQSTSPSQP RKKIFKPEEL RQALMPTLEA LYRQDPESLP FRQPVDPQLL GIPDYFDIVK NPMDLSTIKR KLDTGQYQEP WQYVDDVWLM FNNAWLYNRK TSRVYKFCSK LAEVFEQEID PVMQSLGYCC GRKYEFSPQT LCCYGKQLCT IPRDAAYYSY QNRYHFCEKC FTEIQGENVT LGDDPSQPQT TISKDQFEKK KNDTLDPEPF VDCKECGRKM HQICVLHYDI IWPSGFVCDN CLKKTGRPRK ENKFSAKRLQ TTRLGNHLED RVNKFLRRQN HPEAGEVFVR VVASSDKTVE VKPGMKSRFV DSGEMSESFP YRTKALFAFE EIDGVDVCFF GMHVQEYGSD CPPPNTRRVY ISYLDSIHFF RPRCLRTAVY HEILIGYLEY VKKLGYVTGH IWACPPSEGD DYIFHCHPPD QKIPKPKRLQ EWYKKMLDKA FAERIIHDYK DIFKQATEDR LTSAKELPYF EGDFWPNVLE ESIKELEQEE EERKKEESTA ASETTEGSQG DSKNAKKKNN KKTNKNKSSI SRANKKKPSM PNVSNDLSQK LYATMEKHKE VFFVIHLHAG PVINTLPPIV DPDPLLSCDL MDGRDAFLTL ARDKHWEFSS LRRSKWSTLC MLVELHTQGQ DRFVYTCNEC KHHVETRWHC TVCEDYDLCI NCYNTKSHAH KMVKWGLGLD DEGSSQGEPQ SKSPQESRRL SIQRCIQSLV HACQCRNANC SLPSCQKMKR VVQHTKGCKR KTNGGCPVCK QLIALCCYHA KHCQENKCPV PFCLNIKHKL RQQQIQHRLQ QAQLMRRRMA TMNTRNVPQQ SLPSPTSAPP GTPTQQPSTP QTPQPPAQPQ PSPVSMSPAG FPSVARTQPP TTVSTGKPTS QVPAPPPPAQ PPPAAVEAAR QIEREAQQQQ HLYRVNINNS MPPGRTGMGT PGSQMAPVSL NVPRPNQVSG PVMPSMPPGQ WQQAPLPQQQ PMPGLPRPVI SMQAQAAVAG PRMPSVQPPR SISPSALQDL LRTLKSPSSP QQQQQVLNIL KSNPQLMAAF IKQRTAKYVA NQPGMQPQPG LQSQPGMQPQ PGMHQQPSLQ NLNAMQAGVP RPGVPPQQQA MGGLNPQGQA LNIMNPGHNP NMASMNPQYR EMLRRQLLQQ QQQQQQQQQQ QQQQQQGSAG MAGGMAGHGQ FQQPQGPGGY PPAMQQQQRM QQHLPLQGSS MGQMAAQMGQ LGQMGQPGLG ADSTPNIQQA LQQRILQQQQ MKQQIGSPGQ PNPMSPQQHM LSGQPQASHL PGQQIATSLS NQVRSPAPVQ SPRPQSQPPH SSPSPRIQPQ PSPHHVSPQT GSPHPGLAVT MASSIDQGHL GNPEQSAMLP QLNTPSRSAL SSELSLVGDT TGDTLEKFVE GL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.