Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 3,488 | 432 | 3,022 |
| Samples | 1,656 | 276 | 1,359 |
| Peptides | 1,134 | 179 | 985 |
Function
CREBBP · CREB binding lysine acetyltransferase
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. [provided by RefSeq, Feb 2009].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 1123 amino-acid changes on canonical ENST00000262367 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in CREBBP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CREBBP – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 11/40 28% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Endometrial Carcinoma | 13/42 31% | 49/612 8% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Melanoma | 21/210 10% | 126/1899 7% |
| Squamous Cell Lung Carcinoma | 13/57 23% | 43/810 5% |
| Cervical Carcinoma | 6/35 17% | 23/422 5% |
| Burkitts Lymphoma | 3/32 9% | 11/196 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Neuroendocrine Tumour | 13/154 8% | 25/577 4% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 5/122 4% |
| Colorectal Carcinoma | 29/143 20% | 138/3239 4% |
| Bladder Carcinoma | 5/58 9% | 45/956 5% |
| Non-Small Cell Lung Carcinoma | 23/304 8% | 58/1390 4% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 120/2550 5% |
| Other Solid Cancers | 8/94 9% | 67/1515 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Gastric Carcinoma | 6/74 8% | 73/1809 4% |
| Small Cell Lung Carcinoma | 0/9 0% | 26/752 3% |
| B-Cell Non-Hodgkins Lymphoma | 15/88 17% | 74/2534 3% |
| Head and Neck Carcinoma | 5/85 6% | 51/1574 3% |
| B-Lymphoblastic Leukemia | 5/55 9% | 81/2640 3% |
| Ovarian Carcinoma | 13/109 12% | 21/998 2% |
| Germ Cell Tumour | 3/25 12% | 2/169 1% |
| Plasma Cell Myeloma | 3/44 7% | 5/305 2% |
| Other Blood Cancers | 5/61 8% | 58/2725 2% |
| Non-Cancerous | 9/104 9% | 12/830 1% |
| Hepatocellular Carcinoma | 3/46 7% | 46/2210 2% |
Mutation Distribution
Where CREBBP is mutated · all tissues, split by cell line vs tissue
How many mutations in CREBBP were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 3,488 mutations in CREBBP
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|