P2RX7

Purinergic receptor P2X 7 Q99572 P2RX7_HUMAN
Protein Coding Chr 12 12q24.31 Swiss-Prot reviewed Entrez 5027
Mutations
339
CL 68 · Tissue 261
Samples
303
CL 61 · Tissue 233
Peptides
197
unique mutant peptides
Transcripts
1
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations33968261
Samples30361233
Peptides19741152

Function

P2RX7 · Purinergic receptor P2X 7

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010].

Isoforms & Proteins

1 transcript · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000328963 Q99572 339 197

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.31
Entrez ID
Aliases
P2X7

Recurrent Mutations

All 197 amino-acid changes on canonical ENST00000328963 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 P2RX7 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in P2RX7 – 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 typeCell linesTissue samples
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Rhabdomyosarcoma
0/33 0%
4/171 2%
Other Solid Cancers
1/94 1%
29/1515 2%
Non-Small Cell Lung Carcinoma
5/304 2%
24/1390 2%
Colorectal Carcinoma
10/143 7%
43/3239 1%
Neuroendocrine Tumour
9/154 6%
2/577 0%
Endometrial Carcinoma
1/42 2%
8/612 1%
Mesothelioma
3/62 5%
0/165 0%
Melanoma
4/210 2%
21/1899 1%
Cervical Carcinoma
0/35 0%
5/422 1%
Squamous Cell Lung Carcinoma
3/57 5%
5/810 1%
Other Sarcomas
2/69 3%
5/699 1%
Bladder Carcinoma
0/58 0%
9/956 1%
Gastric Carcinoma
1/74 1%
10/1809 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Neuroblastoma
7/87 8%
0/1331 0%
Hepatocellular Carcinoma
0/46 0%
10/2210 0%
Meningioma
0/3 0%
1/252 0%
B-Cell Non-Hodgkins Lymphoma
6/88 7%
4/2534 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Glioma
0/52 0%
7/2127 0%
Other Blood Cancers
1/61 2%
7/2725 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
6/2550 0%
Ovarian Carcinoma
0/109 0%
3/998 0%
Breast Carcinoma
0/144 0%
9/3264 0%
Esophageal Carcinoma
0/23 0%
2/769 0%

Mutation Distribution

Where P2RX7 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in P2RX7 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 339 mutations in P2RX7

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide