EML4

EMAP like 4 Q9HC35 EMAL4_HUMAN
Protein Coding Chr 2 2p21 Swiss-Prot reviewed Entrez 27436
Mutations
1,233
CL 144 · Tissue 1,070
Samples
397
CL 72 · Tissue 318
Peptides
327
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
Mutations1,2331441,070
Samples39772318
Peptides32753285

Function

EML4 · EMAP like 4

This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 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
ENST00000318522 Q9HC35 441 312
ENST00000401738 B5MBZ0* 407 303
ENST00000402711 Q9HC35-2 385 284

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2p21
Entrez ID
Aliases
C2orf2ELP120EMAP-4EMAPL4ROPP120

Recurrent Mutations

All 312 amino-acid changes on canonical ENST00000318522 · 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 EML4 · 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 EML4 – 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
5/40 12%
0/0 0%
Unknown
0/10 0%
2/29 7%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
3/42 7%
21/612 3%
Melanoma
6/210 3%
37/1899 2%
Burkitts Lymphoma
1/32 3%
3/196 2%
Bladder Carcinoma
0/58 0%
15/956 2%
Non-Small Cell Lung Carcinoma
8/304 3%
15/1390 1%
Colorectal Carcinoma
12/143 8%
31/3239 1%
Other Solid Cancers
3/94 3%
14/1515 1%
Glioblastoma
1/98 1%
0/0 0%
Hepatocellular Carcinoma
1/46 2%
22/2210 1%
Gastric Carcinoma
2/74 3%
17/1809 1%
Rhabdomyosarcoma
0/33 0%
2/171 1%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Medulloblastoma
0/0 0%
4/450 1%
Thyroid Gland Carcinoma
4/45 9%
10/1592 1%
Pancreatic Carcinoma
3/89 3%
11/1611 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Head and Neck Carcinoma
2/85 2%
11/1574 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Glioma
0/52 0%
14/2127 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Biliary Tract Carcinoma
1/54 2%
5/950 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
13/2550 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Prostate Carcinoma
0/13 0%
11/2105 1%
Breast Carcinoma
0/144 0%
16/3264 0%

Mutation Distribution

Where EML4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in EML4 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 1,233 mutations in EML4

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