ENPP3

Ectonucleotide pyrophosphatase/phosphodiesterase 3 O14638 ENPP3_HUMAN
Protein Coding Chr 6 6q23.2 Swiss-Prot reviewed Entrez 5169
Mutations
1,208
CL 137 · Tissue 1,056
Samples
442
CL 80 · Tissue 355
Peptides
375
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
Mutations1,2081371,056
Samples44280355
Peptides37552324

Function

ENPP3 · Ectonucleotide pyrophosphatase/phosphodiesterase 3

The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015].

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
ENST00000357639 O14638 473 365
ENST00000414305 O14638 426 345
ENST00000358229 - 309 244

Gene Properties

Type
Protein Coding
Chromosome
6
Cytoband
6q23.2
Entrez ID
Aliases
B10CD203cNPP3PD-IBETAPDNP3

Recurrent Mutations

All 365 amino-acid changes on canonical ENST00000357639 · 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 ENPP3 · 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 ENPP3 – 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-Cell Non-Hodgkins Lymphoma
3/26 12%
0/0 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Endometrial Carcinoma
2/42 5%
26/612 4%
Melanoma
4/210 2%
73/1899 4%
Squamous Cell Lung Carcinoma
3/57 5%
22/810 3%
Non-Small Cell Lung Carcinoma
8/304 3%
30/1390 2%
Glioblastoma
2/98 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Other Solid Cancers
4/94 4%
24/1515 2%
Cervical Carcinoma
0/35 0%
6/422 1%
Colorectal Carcinoma
7/143 5%
35/3239 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Bladder Carcinoma
4/58 7%
7/956 1%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
24/2550 1%
Gastric Carcinoma
2/74 3%
15/1809 1%
Non-Cancerous
3/104 3%
5/830 1%
Head and Neck Carcinoma
1/85 1%
13/1574 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Biliary Tract Carcinoma
1/54 2%
6/950 1%
Glioma
4/52 8%
11/2127 1%
Other Sarcomas
3/69 4%
2/699 0%
Ovarian Carcinoma
3/109 3%
4/998 0%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Neuroblastoma
4/87 5%
3/1331 0%
Hepatocellular Carcinoma
1/46 2%
10/2210 0%
Breast Carcinoma
1/144 1%
13/3264 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Ewings Sarcoma
0/63 0%
1/262 0%

Mutation Distribution

Where ENPP3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ENPP3 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 1,208 mutations in ENPP3

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