PAICS
Phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase P22234 PUR6_HUMANStats 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 | 460 | 88 | 364 |
| Samples | 138 | 42 | 93 |
| Peptides | 118 | 30 | 85 |
Function
PAICS · Phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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 108 amino-acid changes on canonical ENST00000512576 · 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 PAICS · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PAICS – 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 |
|---|---|---|
| Burkitts Lymphoma | 2/32 6% | 2/196 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 4/1390 0% |
| Endometrial Carcinoma | 0/42 0% | 6/612 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Colorectal Carcinoma | 4/143 3% | 13/3239 0% |
| Thyroid Gland Carcinoma | 3/45 7% | 5/1592 0% |
| Bladder Carcinoma | 2/58 3% | 3/956 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Other Solid Cancers | 1/94 1% | 6/1515 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Melanoma | 2/210 1% | 7/1899 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Other Blood Cancers | 1/61 2% | 4/2725 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Pancreatic Carcinoma | 2/89 2% | 1/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Gastric Carcinoma | 0/74 0% | 2/1809 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
Mutation Distribution
Where PAICS is mutated · all tissues, split by cell line vs tissue
How many mutations in PAICS 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 460 mutations in PAICS
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 |
|---|