EP300

E1A binding protein p300, the group of Bromodomain containing|Zinc fingers ZZ-type|Lysine acetyltransferases

Basic information

Region (hg38): 22:41092591-41180077

Links

ENSG00000100393 ∙ NCBI:2033 ∙ OMIM:602700 ∙ HGNC:3373 ∙ Uniprot:Q09472 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Definitive), mode of inheritance: AD
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Strong), mode of inheritance: AD
• Rubinstein-Taybi syndrome (Definitive), mode of inheritance: AD
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Strong), mode of inheritance: AD
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2	AD	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic	Rubinstein-Taybi syndrome can include a risk of frequent infections (especially respiratory infections), and prophylaxis and early and aggressive treatment of infections may be beneficial; Menke-Hennekam syndrome can include frequent infections, and prophylaxis and early and aggressive treatment of infections may be beneficial; Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Craniofacial; Musculoskeletal; Neurologic	15706485; 17299436; 17220215; 19353645; 20014264; 20301699; 20717166; 21376300; 24352918; 25712426; 27465822; 29460469
The condition may include a risk of malignancy and frequent infections, as well as arrhythmia

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EP300 gene.

• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (725 variants)
• not provided (563 variants)
• not specified (105 variants)
• EP300-related condition (84 variants)
• Inborn genetic diseases (82 variants)
• Rubinstein-Taybi syndrome due to CREBBP mutations (40 variants)
• Menke-Hennekam syndrome 2 (18 variants)
• Intellectual disability (9 variants)
• See cases (5 variants)
• Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (4 variants)
• Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer;Menke-Hennekam syndrome 2 (4 variants)
• Rubinstein-Taybi syndrome (3 variants)
• Colorectal carcinoma;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (3 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer (3 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal carcinoma (3 variants)
• Colorectal cancer (2 variants)
• Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer (2 variants)
• Neurodevelopmental disorder (2 variants)
• Neurodevelopmental delay (2 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to CREBBP mutations;Colorectal cancer (2 variants)
• Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (2 variants)
• Feeding difficulties;Facial grimacing;Thumb deformity;Global developmental delay;Micrognathia (1 variants)
• Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer (1 variants)
• 7 conditions (1 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 2;Colorectal cancer (1 variants)
• Menke-Hennekam syndrome 2;Colorectal cancer;Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (1 variants)
• Autosomal dominant cerebellar ataxia (1 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Rubinstein-Taybi syndrome (1 variants)
• Developmental and epileptic encephalopathy, 18 (1 variants)
• Hepatoblastoma (1 variants)
• Epileptic encephalopathy;Corpus callosum, agenesis of;Microcephaly (1 variants)
• EP300-related disorders (1 variants)
• Multiple congenital anomalies (1 variants)
• Multicystic kidney dysplasia (1 variants)
• Hereditary breast ovarian cancer syndrome (1 variants)
• Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2;Colorectal cancer (1 variants)
• Abnormal facial shape;Postaxial polydactyly;Intellectual disability (1 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EP300 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			8	172	67	247
missense	4	25	389	97	44	559
nonsense	32	10	1			43
start loss						0
frameshift	55	19	1			75
inframe indel	1		24	2	1	28
splice donor/acceptor (+/-2bp)	3	7	2	1		13
splice region	1	4	16	21	10	52
non coding	1		22	86	101	210
Total	96	61	447	358	213

Variants in EP300

This is a list of pathogenic ClinVar variants found in the EP300 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-41092996-G-T		EP300-related disorder	Likely benign (Sep 15, 2021)
22-41093011-G-A		Menke-Hennekam syndrome 2	Uncertain significance (Oct 01, 2019)
22-41093013-G-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Uncertain significance (Jul 07, 2023)
22-41093016-T-A			Uncertain significance (Mar 13, 2021)
22-41093016-T-C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • EP300-related disorder	Likely benign (Jan 08, 2024)
22-41093032-C-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Uncertain significance (Jul 19, 2022)
22-41093033-C-G		EP300-related disorder	Likely benign (Apr 04, 2022)
22-41093035-C-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • EP300-related disorder	Conflicting classifications of pathogenicity (Apr 28, 2023)
22-41093037-T-A		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign (Aug 30, 2023)
22-41093046-G-T		Inborn genetic diseases	Uncertain significance (Feb 06, 2023)
22-41093049-G-A		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • EP300-related disorder	Benign/Likely benign (Feb 15, 2024)
22-41093051-C-G		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Uncertain significance (Jun 25, 2022)
22-41093067-G-C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign (Jul 25, 2023)
22-41093070-CCT-C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Pathogenic (Sep 20, 2016)
22-41093073-C-A			Likely benign (Aug 20, 2018)
22-41093079-G-A		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Jul 07, 2023)
22-41093092-G-A		EP300-related disorder • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Uncertain significance (Jan 07, 2024)
22-41093107-C-T		EP300-related disorder	Likely benign (Jan 30, 2024)
22-41093108-G-A		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Feb 03, 2023)
22-41093110-C-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Aug 10, 2023)
22-41093111-A-G		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign (Jan 25, 2024)
22-41093115-C-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Nov 19, 2023)
22-41093115-C-CCT		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Jul 07, 2023)
22-41093117-G-A		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (May 08, 2023)
22-41093139-C-T			Benign (Sep 16, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EP300	protein_coding	protein_coding	ENST00000263253	31	88292

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.11e-15	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.03	1119	1.33e+3	0.843	0.0000732	15941
Missense in Polyphen		177	337.96	0.52374		4133
Synonymous	-7.05	659	465	1.42	0.0000258	4698
Loss of Function	9.65	6	120	0.0500	0.00000710	1222

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-27' (H3K27ac) (PubMed:23911289). Also functions as acetyltransferase for nonhistone targets. Acetylates 'Lys-131' of ALX1 and acts as its coactivator (PubMed:12929931). Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function (PubMed:18722353). Acetylates HDAC1 leading to its inactivation and modulation of transcription (PubMed:16762839). Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2 (PubMed:12586840). Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement. Can also mediate transcriptional repression. Acetylates FOXO1 and enhances its transcriptional activity (PubMed:15890677). Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity (PubMed:12402037). Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter (PubMed:14645221). Acetylates MTA1 at 'Lys-626' which is essential for its transcriptional coactivator activity (PubMed:16617102). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates MEF2D (PubMed:21030595). Acetylates and stabilizes ZBTB7B protein by antagonizing ubiquitin conjugation and degragation, this mechanism may be involved in CD4/CD8 lineage differentiation (PubMed:20810990). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), butanoyl-CoA (butyryl-CoA) or propanoyl-CoA (propionyl-CoA), and is able to mediate protein crotonylation, butyrylation or propionylation, respectively (PubMed:25818647, PubMed:17267393). Acts as a histone crotonyltransferase; crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25818647). Histone crotonyltransferase activity is dependent on the concentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate and such activity is weak when (E)-but-2-enoyl-CoA (crotonyl-CoA) concentration is low (PubMed:25818647). Also acts as a histone butyryltransferase; butyrylation marks active promoters (PubMed:17267393). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). {ECO:0000250|UniProtKB:B2RWS6, ECO:0000269|PubMed:10733570, ECO:0000269|PubMed:11430825, ECO:0000269|PubMed:11701890, ECO:0000269|PubMed:12402037, ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:15186775, ECO:0000269|PubMed:15890677, ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:16762839, ECO:0000269|PubMed:17267393, ECO:0000269|PubMed:18722353, ECO:0000269|PubMed:18995842, ECO:0000269|PubMed:20810990, ECO:0000269|PubMed:21030595, ECO:0000269|PubMed:23415232, ECO:0000269|PubMed:23911289, ECO:0000269|PubMed:23934153, ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:25514493, ECO:0000269|PubMed:25818647, ECO:0000269|PubMed:8945521, ECO:0000305|PubMed:20955178}.
• Disease: DISEASE: Note=Defects in EP300 may play a role in epithelial cancer.; DISEASE: Note=Chromosomal aberrations involving EP300 may be a cause of acute myeloid leukemias. Translocation t(8;22)(p11;q13) with KAT6A.; DISEASE: Rubinstein-Taybi syndrome 2 (RSTS2) [MIM:613684]: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. {ECO:0000269|PubMed:15706485}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);TGF-beta signaling pathway - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Adherens junction - Homo sapiens (human);Cell cycle - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Influenza A - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Glucagon signaling pathway - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Notch signaling pathway - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);Cell Cycle;Androgen receptor signaling pathway;Energy Metabolism;Integrated Breast Cancer Pathway;Signaling Pathways in Glioblastoma;Aryl Hydrocarbon Receptor;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Kit receptor signaling pathway;Initiation of transcription and translation elongation at the HIV-1 LTR;Pathways Affected in Adenoid Cystic Carcinoma;Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex;TGF-beta Signaling Pathway;IL-4 Signaling Pathway;Wnt Signaling Pathway and Pluripotency;Prion disease pathway;Pathways in clear cell renal cell carcinoma;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Type 2 papillary renal cell carcinoma;TGF-beta Receptor Signaling;Notch Signaling Pathway;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Developmental Biology;B-WICH complex positively regulates rRNA expression;Positive epigenetic regulation of rRNA expression;Notch;Regulation of RUNX3 expression and activity;DNA Repair;Disease;RUNX3 regulates NOTCH signaling;Signaling by WNT;Signal Transduction;Epigenetic regulation of gene expression;Gene expression (Transcription);RUNX3 regulates p14-ARF;Transcriptional regulation by RUNX3;Attenuation phase;HSF1-dependent transactivation;mechanism of gene regulation by peroxisome proliferators via ppara;hypoxia-inducible factor in the cardivascular system;hypoxia and p53 in the cardiovascular system;Circadian Clock;RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;erythropoietin mediated neuroprotection through nf-kb;melanocyte development and pigmentation pathway;il-7 signal transduction;pelp1 modulation of estrogen receptor activity;role of mef2d in t-cell apoptosis;acetylation and deacetylation of rela in nucleus;transcription regulation by methyltransferase of carm1;nfkb activation by nontypeable hemophilus influenzae;multi-step regulation of transcription by pitx2;carm1 and regulation of the estrogen receptor;role of erbb2 in signal transduction and oncology;Generic Transcription Pathway;Cellular responses to stress;Post-translational protein modification;TRAF6 mediated IRF7 activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production;Metabolism of proteins;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);RNA Polymerase II Transcription;PI5P Regulates TP53 Acetylation;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Chromatin modifying enzymes;Polo-like kinase mediated events;Notch;HIF-2-alpha transcription factor network;RORA activates gene expression;Oncostatin_M;Hedgehog;Innate Immune System;Immune System;Transcriptional regulation of white adipocyte differentiation;TRAF3-dependent IRF activation pathway;p73 transcription factor network;KitReceptor;ATF-2 transcription factor network;Pre-NOTCH Transcription and Translation;Pre-NOTCH Expression and Processing;Signaling by NOTCH1;NOTCH2 intracellular domain regulates transcription;Signaling by NOTCH2;NOTCH3 Intracellular Domain Regulates Transcription;Signaling by NOTCH3;Signaling by NOTCH;AndrogenReceptor;TGF-beta super family signaling pathway canonical;Metalloprotease DUBs;HATs acetylate histones;cell cycle: g2/m checkpoint;Cellular responses to external stimuli;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;TGF_beta_Receptor;TP53 Regulates Transcription of Cell Cycle Genes;tgf beta signaling pathway;Glucocorticoid receptor regulatory network;Validated transcriptional targets of TAp63 isoforms;G2/M Transition;Mitotic G2-G2/M phases;LIF signaling;FOXA1 transcription factor network;Cellular response to heat stress;Deubiquitination;Signaling by Nuclear Receptors;Chromatin organization;Regulation of TP53 Activity through Methylation;C-MYB transcription factor network;Regulation of TP53 Activity through Acetylation;Regulation of TP53 Activity;Activation of the TFAP2 (AP-2) family of transcription factors;Transcriptional Regulation by TP53;IFN-gamma pathway;Notch signaling pathway;Direct p53 effectors;IL4;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors;Estrogen-dependent gene expression;Cell Cycle;IL6;TNFalpha;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Signaling by NOTCH1 PEST Domain Mutants in Cancer;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer;Signaling by NOTCH1 in Cancer;Cytosolic sensors of pathogen-associated DNA ;BMP2 signaling TGF-beta MV;Cell Cycle, Mitotic;BMP signaling Dro;ESR-mediated signaling;Wnt Canonical;Formation of TC-NER Pre-Incision Complex;Regulation of nuclear beta catenin signaling and target gene transcription;Notch-mediated HES/HEY network;Transcriptional regulation by RUNX1;Diseases of signal transduction;Validated nuclear estrogen receptor alpha network;Validated targets of C-MYC transcriptional repression;Validated targets of C-MYC transcriptional activation;Retinoic acid receptors-mediated signaling;AP-1 transcription factor network;Formation of the beta-catenin:TCF transactivating complex;TCF dependent signaling in response to WNT;HIF-1-alpha transcription factor network;Regulation of Androgen receptor activity;Signaling events mediated by HDAC Class III;FOXM1 transcription factor network;FoxO family signaling;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Wnt Mammals;NOTCH1 Intracellular Domain Regulates Transcription;Validated transcriptional targets of AP1 family members Fra1 and Fra2;Regulation of retinoblastoma protein;Signaling events mediated by HDAC Class I;Regulation of nuclear SMAD2/3 signaling;E2F transcription factor network;p53 pathway;Dual incision in TC-NER;Gap-filling DNA repair synthesis and ligation in TC-NER;Transcription-Coupled Nucleotide Excision Repair (TC-NER);Nucleotide Excision Repair (Consensus)

Recessive Scores

• pRec: 0.910

Intolerance Scores

• loftool: 0.000482
• rvis_EVS: -3.68
• rvis_percentile_EVS: 0.26

Haploinsufficiency Scores

• pHI: 1.00
• hipred: Y
• hipred_score: 0.783
• ghis: 0.609

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ep300
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; craniofacial phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; respiratory system phenotype; immune system phenotype; renal/urinary system phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm; embryo phenotype

Zebrafish Information Network

• Gene name: ep300a
• Affected structure: pharyngeal arch 3-7
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;response to hypoxia;somitogenesis;stimulatory C-type lectin receptor signaling pathway;transcription-coupled nucleotide-excision repair;regulation of transcription, DNA-templated;protein acetylation;internal protein amino acid acetylation;apoptotic process;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response;Notch signaling pathway;positive regulation of transcription of Notch receptor target;nervous system development;heart development;skeletal muscle tissue development;circadian rhythm;animal organ morphogenesis;regulation of autophagy;macrophage derived foam cell differentiation;positive regulation of neuron projection development;viral process;histone acetylation;N-terminal peptidyl-lysine acetylation;internal peptidyl-lysine acetylation;peptidyl-lysine acetylation;B cell differentiation;platelet formation;lung development;positive regulation of transforming growth factor beta receptor signaling pathway;protein destabilization;positive regulation of protein binding;negative regulation of protein oligomerization;positive regulation of type I interferon production;cellular response to UV;megakaryocyte development;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;response to estrogen;positive regulation by host of viral transcription;histone H4 acetylation;histone H2B acetylation;fat cell differentiation;regulation of megakaryocyte differentiation;positive regulation of Notch signaling pathway;positive regulation of gene expression, epigenetic;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;protein stabilization;positive regulation of DNA-binding transcription factor activity;regulation of cell cycle;regulation of androgen receptor signaling pathway;regulation of transcription from RNA polymerase II promoter in response to hypoxia;peptidyl-lysine propionylation;regulation of tubulin deacetylation;peptidyl-lysine crotonylation;peptidyl-lysine butyrylation;regulation of cellular response to heat;regulation of signal transduction by p53 class mediator;beta-catenin-TCF complex assembly
• Cellular component: histone acetyltransferase complex;nucleus;nucleoplasm;transcription factor complex;chromosome;cytosol;protein-DNA complex
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;RNA polymerase II activating transcription factor binding;DNA-binding transcription activator activity, RNA polymerase II-specific;p53 binding;DNA binding;chromatin binding;damaged DNA binding;transcription coactivator activity;histone acetyltransferase activity;lysine N-acetyltransferase activity, acting on acetyl phosphate as donor;protein binding;beta-catenin binding;protein C-terminus binding;transcription factor binding;zinc ion binding;acetyltransferase activity;transferase activity, transferring acyl groups;chromatin DNA binding;activating transcription factor binding;peptide N-acetyltransferase activity;nuclear hormone receptor binding;tau protein binding;androgen receptor binding;peptide-lysine-N-acetyltransferase activity;protein propionyltransferase activity;pre-mRNA intronic binding;STAT family protein binding;peptide butyryltransferase activity;histone crotonyltransferase activity;histone butyryltransferase activity