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 | 1,096 | 130 | 955 |
| Samples | 379 | 58 | 315 |
| Peptides | 315 | 40 | 275 |
Function
PYGL · Glycogen phosphorylase L
This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011].
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 ENST00000216392 · 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 PYGL · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PYGL – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 15/612 2% |
| Unknown | 0/10 0% | 1/29 3% |
| Melanoma | 7/210 3% | 42/1899 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 15/1390 1% |
| Colorectal Carcinoma | 6/143 4% | 49/3239 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 13/810 2% |
| Gastric Carcinoma | 0/74 0% | 30/1809 2% |
| Bladder Carcinoma | 2/58 3% | 11/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Hepatocellular Carcinoma | 2/46 4% | 16/2210 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Ovarian Carcinoma | 2/109 2% | 6/998 1% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Neuroendocrine Tumour | 0/154 0% | 5/577 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Kidney Carcinoma | 5/85 6% | 7/1862 0% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Non-Cancerous | 1/104 1% | 3/830 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 9/2550 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Breast Carcinoma | 0/144 0% | 13/3264 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Pancreatic Carcinoma | 1/89 1% | 4/1611 0% |
Mutation Distribution
Where PYGL is mutated · all tissues, split by cell line vs tissue
How many mutations in PYGL 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 1,096 mutations in PYGL
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 |
|---|