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 | 791 | 85 | 686 |
| Samples | 378 | 50 | 319 |
| Peptides | 314 | 41 | 277 |
Function
PGAP1 · Post-GPI attachment to proteins inositol deacylase 1
The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017].
Isoforms & Proteins
3 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 302 amino-acid changes on canonical ENST00000354764 · 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 PGAP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PGAP1 – 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 | 4/40 10% | 0/0 0% |
| Unknown | 2/10 20% | 0/29 0% |
| Endometrial Carcinoma | 4/42 10% | 26/612 4% |
| Melanoma | 6/210 3% | 48/1899 3% |
| Gastric Carcinoma | 1/74 1% | 33/1809 2% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 17/1390 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 10/810 1% |
| Ovarian Carcinoma | 1/109 1% | 13/998 1% |
| Colorectal Carcinoma | 10/143 7% | 32/3239 1% |
| Ewings Sarcoma | 3/63 5% | 1/262 0% |
| Meningioma | 1/3 33% | 2/252 1% |
| Other Solid Cancers | 0/94 0% | 19/1515 1% |
| Biliary Tract Carcinoma | 0/54 0% | 9/950 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 13/1592 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 22/2550 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Hepatocellular Carcinoma | 0/46 0% | 14/2210 1% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Breast Carcinoma | 1/144 1% | 15/3264 0% |
| Pancreatic Carcinoma | 1/89 1% | 7/1611 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Glioma | 0/52 0% | 4/2127 0% |
Mutation Distribution
Where PGAP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PGAP1 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 791 mutations in PGAP1
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 |
|---|