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 | 1,586 | 174 | 1,377 |
| Samples | 320 | 60 | 256 |
| Peptides | 309 | 51 | 256 |
Function
PTBP1 · Polypyrimidine tract binding protein 1
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
7 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 |
|---|---|---|---|
| ENST00000356948 | P26599 | 328 | 249 |
| ENST00000635647 | A0A0U1RRM4* | 306 | 247 |
| ENST00000394601 | P26599-2 | 291 | 233 |
| ENST00000349038 | P26599-1 | 280 | 224 |
| ENST00000350092 | A6NLN1* | 276 | 221 |
| ENST00000627714 | A0A0D9SF20* | 104 | 86 |
| ENST00000676227 | A0A6Q8PEX4* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 249 amino-acid changes on canonical ENST00000356948 · 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 PTBP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PTBP1 – 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 | 2/40 5% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Endometrial Carcinoma | 5/42 12% | 12/612 2% |
| Melanoma | 5/210 2% | 44/1899 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Colorectal Carcinoma | 9/143 6% | 40/3239 1% |
| Other Solid Cancers | 1/94 1% | 19/1515 1% |
| Gastric Carcinoma | 0/74 0% | 23/1809 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Head and Neck Carcinoma | 1/85 1% | 12/1574 1% |
| Hepatocellular Carcinoma | 2/46 4% | 15/2210 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 6/1390 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 12/2550 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 3/810 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Glioma | 0/52 0% | 10/2127 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Breast Carcinoma | 4/144 3% | 10/3264 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Prostate Carcinoma | 1/13 8% | 6/2105 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 3/2534 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
Mutation Distribution
Where PTBP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PTBP1 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 1,586 mutations in PTBP1
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 |
|---|