CREBBP CREB binding protein
Gene info
Synonyms
RTS, CBP, KAT3A
Previous symbol
RSTS
External ID
HGNC: 2348
Entrez Gene: 1387
Ensembl: ENSG00000005339
UCSC: uc002cvv.4
OMIM:
600140
UniProtKB:
Q92793
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Bicuspid aortic valve
- Patent ductus arteriosus
- Pulmonic stenosis
- Coarctation of the aorta
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
heterozygous null mouse has 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 CREBBP: BED file
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Selected References
- Stevens, C. A., & Bhakta, M. G. (1995). Cardiac abnormalities in the Rubinstein-Taybi syndrome. American Journal of Medical Genetics, 59(3), 346–348. https://doi.org/10.1002/ajmg.1320590313 DOI:10.1002/ajmg.1320590313 PMID:8599359
- Rusconi, D., Negri, G., Colapietro, P., Picinelli, C., Milani, D., Spena, S., Magnani, C., Silengo, M. C., Sorasio, L., Curtisova, V., Cavaliere, M. L., Prontera, P., Stangoni, G., Ferrero, G. B., Biamino, E., Fischetto, R., Piccione, M., Gasparini, P., Salviati, L., … Gervasini, C. (2015). Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire. Human Genetics, 134(6), 613–626. https://doi.org/10.1007/s00439-015-1542-9 DOI:10.1007/s00439-015-1542-9 PMID:25805166
- Bartsch, O. (2002). Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. Journal of Medical Genetics, 39(7), 496–501. https://doi.org/10.1136/jmg.39.7.496 DOI:10.1136/jmg.39.7.496 PMID:12114483
- Bentivegna, A., Milani, D., Gervasini, C., Castronovo, P., Mottadelli, F., Manzini, S., Colapietro, P., Giordano, L., Atzeri, F., Divizia, M. T., Uzielli, M. L. G., Neri, G., Bedeschi, M. F., Faravelli, F., Selicorni, A., & Larizza, L. (2006). Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Medical Genetics, 7(1). https://doi.org/10.1186/1471-2350-7-77 DOI:10.1186/1471-2350-7-77 PMID:17052327
- Coupry, I. (2002). Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. Journal of Medical Genetics, 39(6), 415–421. https://doi.org/10.1136/jmg.39.6.415 DOI:10.1136/jmg.39.6.415 PMID:12070251
- Roelfsema, J. H., White, S. J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C. A., den Dunnen, J. T., van Ommen, G.-J. B., Breuning, M. H., Hennekam, R. C., & Peters, D. J. M. (2005). Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease. The American Journal of Human Genetics, 76(4), 572–580. https://doi.org/10.1086/429130 DOI:10.1086/429130 PMID:15706485