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CREBBP

Synonyms
CBP, KAT3A, MKHK1, RSTS, RSTS1
External resources
Summary
This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
6
Likely pathogenic
6
VUS
3,652
Likely benign
13,056
Benign
1,794

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on CREBBP gene are displayed below. The following symptoms were found in patients with a variant in CREBBP. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
58.3%
Abnormality of the nervous system
41.7%
Abnormality of head or neck
33.3%
Abnormality of limbs
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the digestive system
25%
Growth abnormality
25%
Abnormality of the eye
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of metabolism homeostasis
8.3%
Abnormality of the ear
8.3%
Abnormality of the genitourinary system
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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