P2RX4

Purinergic receptor P2X 4 Q99571 P2RX4_HUMAN
Protein Coding Chr 12 12q24.31 Swiss-Prot reviewed Entrez 5025
Mutations
326
CL 66 · Tissue 256
Samples
165
CL 41 · Tissue 122
Peptides
129
unique mutant peptides
Transcripts
3
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
Mutations32666256
Samples16541122
Peptides12927107

Function

P2RX4 · Purinergic receptor P2X 4

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012].

Isoforms & Proteins

3 transcripts · 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
ENST00000337233 Q99571 171 122
ENST00000359949 Q99571-2 154 118
ENST00000542067 Q99571-3 1 1

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.31
Entrez ID
Aliases
P2X4P2X4R

Recurrent Mutations

All 122 amino-acid changes on canonical ENST00000337233 · 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 P2RX4 · 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 P2RX4 – 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
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
Endometrial Carcinoma
5/42 12%
7/612 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Colorectal Carcinoma
4/143 3%
34/3239 1%
Gastric Carcinoma
6/74 8%
11/1809 1%
Bladder Carcinoma
0/58 0%
9/956 1%
Melanoma
4/210 2%
12/1899 1%
Non-Small Cell Lung Carcinoma
9/304 3%
3/1390 0%
Cervical Carcinoma
1/35 3%
2/422 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Osteosarcoma
1/45 2%
0/166 0%
Mesothelioma
1/62 2%
0/165 0%
Meningioma
0/3 0%
1/252 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Ovarian Carcinoma
3/109 3%
0/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
4/2550 0%
Glioma
0/52 0%
3/2127 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Other Blood Cancers
0/61 0%
3/2725 0%
Non-Cancerous
0/104 0%
1/830 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%
B-Lymphoblastic Leukemia
0/55 0%
2/2640 0%

Mutation Distribution

Where P2RX4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in P2RX4 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 326 mutations in P2RX4

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