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 | 2,840 | 341 | 2,445 |
| Samples | 586 | 115 | 456 |
| Peptides | 519 | 77 | 441 |
Function
PHKA1 · Phosphorylase kinase regulatory subunit alpha 1
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010].
Isoforms & Proteins
5 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 478 amino-acid changes on canonical ENST00000373542 · 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 PHKA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PHKA1 – 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% |
| Melanoma | 9/210 4% | 125/1899 7% |
| Endometrial Carcinoma | 3/42 7% | 33/612 5% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 23/1390 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 18/810 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 22/143 15% | 38/3239 1% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Bladder Carcinoma | 4/58 7% | 13/956 1% |
| Gastric Carcinoma | 1/74 1% | 29/1809 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Neuroendocrine Tumour | 8/154 5% | 3/577 1% |
| Other Solid Cancers | 2/94 2% | 22/1515 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Ovarian Carcinoma | 2/109 2% | 13/998 1% |
| Other Sarcomas | 2/69 3% | 8/699 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Glioma | 4/52 8% | 16/2127 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 11/1592 1% |
| Esophageal Carcinoma | 4/23 17% | 2/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Kidney Carcinoma | 3/85 4% | 11/1862 1% |
| Head and Neck Carcinoma | 0/85 0% | 11/1574 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Breast Carcinoma | 2/144 1% | 18/3264 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 9/2550 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 7/2534 0% |
Mutation Distribution
Where PHKA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PHKA1 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 2,840 mutations in PHKA1
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 |
|---|