ETNPPL

Ethanolamine-phosphate phospho-lyase Q8TBG4 AT2L1_HUMAN
Protein Coding Chr 4 4q25 Swiss-Prot reviewed Entrez 64850
Mutations
1,177
CL 132 · Tissue 1,030
Samples
318
CL 55 · Tissue 259
Peptides
260
unique mutant peptides
Transcripts
4
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
Mutations1,1771321,030
Samples31855259
Peptides26039225

Function

ETNPPL · Ethanolamine-phosphate phospho-lyase

Enables ethanolamine-phosphate phospho-lyase activity. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000296486 Q8TBG4 335 237
ENST00000411864 Q8TBG4-2 297 218
ENST00000510706 E7ENR6* 278 206
ENST00000512646 Q8TBG4-3 267 198

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q25
Entrez ID
Aliases
AGXT2L1

Recurrent Mutations

All 237 amino-acid changes on canonical ENST00000296486 · 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 ETNPPL · 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 ETNPPL – 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
2/40 5%
0/0 0%
Acute Monocytic Leukemia
1/1 100%
0/25 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
2/42 5%
12/612 2%
Non-Small Cell Lung Carcinoma
11/304 4%
24/1390 2%
Glioblastoma
2/98 2%
0/0 0%
Melanoma
4/210 2%
35/1899 2%
Squamous Cell Lung Carcinoma
0/57 0%
15/810 2%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Hodgkins Lymphoma
1/16 6%
1/122 1%
Colorectal Carcinoma
11/143 8%
36/3239 1%
Cervical Carcinoma
2/35 6%
4/422 1%
Bladder Carcinoma
0/58 0%
13/956 1%
Other Solid Cancers
0/94 0%
18/1515 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Gastric Carcinoma
1/74 1%
15/1809 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
16/2550 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Head and Neck Carcinoma
1/85 1%
7/1574 0%
Non-Cancerous
0/104 0%
4/830 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Glioma
0/52 0%
8/2127 0%
Breast Carcinoma
1/144 1%
11/3264 0%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
5/2534 0%
Hepatocellular Carcinoma
2/46 4%
5/2210 0%
Neuroblastoma
1/87 1%
3/1331 0%
Ovarian Carcinoma
0/109 0%
3/998 0%
Medulloblastoma
0/0 0%
1/450 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in ETNPPL 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 1,177 mutations in ETNPPL

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