EEF1AKMT4-ECE2

EEF1AKMT4-ECE2 readthrough P0DPD8 EFCE2_HUMAN
Protein Coding Chr 3 3q27.1 Swiss-Prot reviewed Entrez 110599583
Mutations
516
CL 49 · Tissue 460
Samples
477
CL 45 · Tissue 427
Peptides
374
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
Mutations51649460
Samples47745427
Peptides37441338

Function

EEF1AKMT4-ECE2 · EEF1AKMT4-ECE2 readthrough

This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough transcript representing this gene encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2017].

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
ENST00000402825 P0DPD8 516 374

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q27.1
Entrez ID

Recurrent Mutations

All 374 amino-acid changes on canonical ENST00000402825 · 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 EEF1AKMT4-ECE2 · 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 EEF1AKMT4-ECE2 – 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%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Endometrial Carcinoma
1/42 2%
27/612 4%
Melanoma
0/210 0%
59/1899 3%
Squamous Cell Lung Carcinoma
2/57 4%
17/810 2%
Colorectal Carcinoma
7/143 5%
63/3239 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Non-Small Cell Lung Carcinoma
6/304 2%
25/1390 2%
Bladder Carcinoma
0/58 0%
18/956 2%
Mesothelioma
1/62 2%
3/165 2%
Cervical Carcinoma
1/35 3%
7/422 2%
Gastric Carcinoma
2/74 3%
29/1809 2%
Other Solid Cancers
1/94 1%
25/1515 2%
Neuroendocrine Tumour
5/154 3%
5/577 1%
Ovarian Carcinoma
2/109 2%
10/998 1%
Biliary Tract Carcinoma
1/54 2%
9/950 1%
Esophageal Squamous Cell Carcinoma
1/51 2%
22/2550 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Head and Neck Carcinoma
0/85 0%
13/1574 1%
Other Sarcomas
0/69 0%
6/699 1%
Thyroid Gland Carcinoma
1/45 2%
11/1592 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Glioma
0/52 0%
12/2127 1%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
12/2534 0%
Medulloblastoma
0/0 0%
2/450 0%
Breast Carcinoma
1/144 1%
13/3264 0%
Prostate Carcinoma
0/13 0%
8/2105 0%
Non-Cancerous
1/104 1%
2/830 0%
Ewings Sarcoma
1/63 2%
0/262 0%

Mutation Distribution

Where EEF1AKMT4-ECE2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in EEF1AKMT4-ECE2 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.

Mutations

All 516 mutations in EEF1AKMT4-ECE2

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