P2RX1

Purinergic receptor P2X 1 P51575 P2RX1_HUMAN
Protein Coding Chr 17 17p13.2 Swiss-Prot reviewed Entrez 5023
Mutations
240
CL 41 · Tissue 194
Samples
227
CL 39 · Tissue 185
Peptides
166
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
Mutations24041194
Samples22739185
Peptides16628140

Function

P2RX1 · Purinergic receptor P2X 1

The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013].

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
ENST00000225538 P51575 240 166

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17p13.2
Entrez ID
Aliases
P2X1

Recurrent Mutations

All 166 amino-acid changes on canonical ENST00000225538 · 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 P2RX1 · 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 P2RX1 – 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
6/40 15%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
2/42 5%
14/612 2%
Chondrosarcoma
2/14 14%
0/75 0%
Melanoma
1/210 0%
44/1899 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Other Solid Cancers
1/94 1%
17/1515 1%
Germ Cell Tumour
2/25 8%
0/169 0%
Colorectal Carcinoma
7/143 5%
25/3239 1%
Non-Small Cell Lung Carcinoma
0/304 0%
11/1390 1%
Gastric Carcinoma
1/74 1%
9/1809 0%
Esophageal Carcinoma
0/23 0%
4/769 1%
Glioma
2/52 4%
9/2127 0%
Thyroid Gland Carcinoma
2/45 4%
6/1592 0%
Hepatocellular Carcinoma
1/46 2%
9/2210 0%
Medulloblastoma
0/0 0%
2/450 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Non-Cancerous
0/104 0%
4/830 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Head and Neck Carcinoma
1/85 1%
5/1574 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Other Sarcomas
0/69 0%
2/699 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Prostate Carcinoma
3/13 23%
2/2105 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Pancreatic Carcinoma
1/89 1%
2/1611 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%

Mutation Distribution

Where P2RX1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in P2RX1 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 240 mutations in P2RX1

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