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 | 192 | 68 | 117 |
| Samples | 154 | 63 | 85 |
| Peptides | 119 | 52 | 65 |
Function
AMPD1 · Adenosine monophosphate deaminase 1
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000520113 | P23109 | 123 | 93 |
| ENST00000369538 | P23109-2 | 68 | 48 |
| ENST00000637080 | A0A1B0GTL6* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 93 amino-acid changes on canonical ENST00000520113 · 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 AMPD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AMPD1 – 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 | 2/40 5% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 6/612 1% |
| Rhabdomyosarcoma | 3/33 9% | 0/171 0% |
| Melanoma | 9/210 4% | 21/1899 1% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 5/1390 0% |
| Colorectal Carcinoma | 9/143 6% | 14/3239 0% |
| Ovarian Carcinoma | 3/109 3% | 4/998 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Other Solid Cancers | 1/94 1% | 6/1515 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Pancreatic Carcinoma | 0/89 0% | 5/1611 0% |
| Gastric Carcinoma | 1/74 1% | 4/1809 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Glioma | 1/52 2% | 2/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Head and Neck Carcinoma | 1/85 1% | 1/1574 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 0/2640 0% |
| Prostate Carcinoma | 1/13 8% | 1/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 0/2534 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
Mutation Distribution
Where AMPD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in AMPD1 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 192 mutations in AMPD1
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 |
|---|