EP300 E1A binding protein p300
Gene info
Synonyms
p300, KAT3B
Previous symbol
None
External ID
HGNC: 3373
Entrez Gene: 2033
Ensembl: ENSG00000100393
UCSC: uc003azl.6
OMIM:
602700
UniProtKB:
Q09472
Disease info
CHD Phenotype
- Ventricular septal defect
- Patent foramen ovale
- Patent ductus arteriosus
Extra Cardiac Phenotype
Dysmorphic facies, Microcephaly, Neurodevelopmental dysorder, Failure to thrive, Hypospadias, Hirsutism, scoliosis, digit deformities
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
MGI: Mice homozygotes for targeted null mutations have CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for EP300: BED file
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Selected References
- Woods, S. A., Robinson, H. B., Kohler, L. J., Agamanolis, D., Sterbenz, G., & Khalifa, M. (2013). Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome. American Journal of Medical Genetics Part A, 164(1), 251–258. https://doi.org/10.1002/ajmg.a.36237 DOI:10.1002/ajmg.a.36237 PMID:24352918
- Bartsch, O., Labonté, J., Albrecht, B., Wieczorek, D., Lechno, S., Zechner, U., & Haaf, T. (2009). Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. American Journal of Medical Genetics Part A, 152A(1), 181–184. https://doi.org/10.1002/ajmg.a.33153 DOI:10.1002/ajmg.a.33153 PMID:20014264
- Negri, G., Milani, D., Colapietro, P., Forzano, F., Della Monica, M., Rusconi, D., Consonni, L., Caffi, L. G., Finelli, P., Scarano, G., Magnani, C., Selicorni, A., Spena, S., Larizza, L., & Gervasini, C. (2014). Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene. Clinical Genetics, 87(2), 148–154. https://doi.org/10.1111/cge.12348 DOI:10.1111/cge.12348 PMID:24476420
- Bartholdi, D., Roelfsema, J. H., Papadia, F., Breuning, M. H., Niedrist, D., Hennekam, R. C., Schinzel, A., & Peters, D. J. M. (2007). Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Journal of Medical Genetics, 44(5), 327–333. https://doi.org/10.1136/jmg.2006.046698 DOI:10.1136/jmg.2006.046698 PMID:17220215