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 | 623 | 130 | 473 |
| Samples | 232 | 63 | 160 |
| Peptides | 188 | 43 | 146 |
Function
PSTPIP1 · Proline-serine-threonine phosphatase interacting protein 1
This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016].
Isoforms & Proteins
4 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 163 amino-acid changes on canonical ENST00000558012 · 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 PSTPIP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PSTPIP1 – 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 | 3/40 8% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Endometrial Carcinoma | 3/42 7% | 12/612 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 14/1390 1% |
| Melanoma | 6/210 3% | 18/1899 1% |
| Colorectal Carcinoma | 10/143 7% | 25/3239 1% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 10/1592 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Gastric Carcinoma | 0/74 0% | 12/1809 1% |
| Head and Neck Carcinoma | 3/85 4% | 5/1574 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Other Solid Cancers | 2/94 2% | 4/1515 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
| Breast Carcinoma | 2/144 1% | 9/3264 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 3/2550 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 2/2534 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 2/2640 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
Mutation Distribution
Where PSTPIP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PSTPIP1 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 623 mutations in PSTPIP1
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 |
|---|