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 | 38 | 22 | 0 |
| Samples | 28 | 21 | 0 |
| Peptides | 37 | 21 | 0 |
Function
PALS1 · Protein associated with LIN7 1, MAGUK p55 family member
This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000261681 | Q8N3R9 | 38 | 37 |
Gene Properties
Recurrent Mutations
All 37 amino-acid changes on canonical ENST00000261681 · 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 PALS1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PALS1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Endometrial Carcinoma | 1/42 2% | 1/612 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Colorectal Carcinoma | 6/143 4% | 1/3239 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 1/1390 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 0/2534 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Biliary Tract Carcinoma | 1/54 2% | 0/950 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| Pancreatic Carcinoma | 1/89 1% | 0/1611 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| Hepatocellular Carcinoma | 1/46 2% | 0/2210 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where PALS1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PALS1 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.
Mutations
All 38 mutations in PALS1
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 |
|---|