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 | 2,457 | 401 | 1,970 |
| Samples | 1,027 | 208 | 796 |
| Peptides | 1,085 | 182 | 892 |
Function
BPTF · Bromodomain PHD finger transcription factor
This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
5 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000306378 | Q12830-2 | 1,237 | 952 |
| ENST00000321892 | Q12830 | 1,102 | 909 |
| ENST00000644067 | A0A2R8Y7Q1* | 59 | 55 |
| ENST00000342579 | E9PE19* | 55 | 51 |
| ENST00000582467 | J3QQK4* | 4 | 4 |
Gene Properties
Recurrent Mutations
All 952 amino-acid changes on canonical ENST00000306378 · 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 BPTF · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BPTF – 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 | 10/40 25% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 39/612 6% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Melanoma | 10/210 5% | 97/1899 5% |
| Chordoma | 0/7 0% | 1/13 8% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 54/1390 4% |
| Cervical Carcinoma | 3/35 9% | 16/422 4% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 27/810 3% |
| Bladder Carcinoma | 2/58 3% | 36/956 4% |
| Hodgkins Lymphoma | 2/16 12% | 3/122 2% |
| Colorectal Carcinoma | 25/143 17% | 86/3239 3% |
| Gastric Carcinoma | 3/74 4% | 55/1809 3% |
| Other Solid Cancers | 4/94 4% | 43/1515 3% |
| Biliary Tract Carcinoma | 0/54 0% | 28/950 3% |
| Esophageal Carcinoma | 0/23 0% | 21/769 3% |
| Mesothelioma | 5/62 8% | 1/165 1% |
| Burkitts Lymphoma | 5/32 16% | 1/196 1% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 17/752 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Neuroendocrine Tumour | 10/154 6% | 6/577 1% |
| Esophageal Squamous Cell Carcinoma | 9/51 18% | 42/2550 2% |
| Hepatocellular Carcinoma | 2/46 4% | 42/2210 2% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Ovarian Carcinoma | 9/109 8% | 10/998 1% |
| Non-Cancerous | 2/104 2% | 14/830 2% |
| Head and Neck Carcinoma | 7/85 8% | 19/1574 1% |
| Glioma | 5/52 10% | 26/2127 1% |
| Osteosarcoma | 1/45 2% | 2/166 1% |
Mutation Distribution
Where BPTF is mutated · all tissues, split by cell line vs tissue
How many mutations in BPTF 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 2,457 mutations in BPTF
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 |
|---|