EPS15

Epidermal growth factor receptor pathway substrate 15 P42566 EPS15_HUMAN
Protein Coding Chr 1 1p32.3 Swiss-Prot reviewed Entrez 2060
Mutations
674
CL 109 · Tissue 553
Samples
352
CL 68 · Tissue 278
Peptides
289
unique mutant peptides
Transcripts
2
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
Mutations674109553
Samples35268278
Peptides28942244

Function

EPS15 · Epidermal growth factor receptor pathway substrate 15

This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009].

Isoforms & Proteins

2 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
ENST00000371733 P42566 375 280
ENST00000371730 B1AUU8* 299 229

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p32.3
Entrez ID
Aliases
AF-1PAF1PMLLT5

Recurrent Mutations

All 280 amino-acid changes on canonical ENST00000371733 · 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 EPS15 · 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 EPS15 – 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
Oral Cavity Carcinoma
4/54 7%
0/0 0%
Rhabdomyosarcoma
0/33 0%
9/171 5%
Endometrial Carcinoma
5/42 12%
16/612 3%
Bladder Carcinoma
1/58 2%
27/956 3%
Cervical Carcinoma
1/35 3%
8/422 2%
Burkitts Lymphoma
1/32 3%
3/196 2%
Melanoma
1/210 0%
32/1899 2%
Colorectal Carcinoma
20/143 14%
28/3239 1%
Non-Small Cell Lung Carcinoma
13/304 4%
11/1390 1%
Neuroendocrine Tumour
7/154 5%
2/577 0%
Chondrosarcoma
1/14 7%
0/75 0%
Squamous Cell Lung Carcinoma
1/57 2%
8/810 1%
Glioblastoma
1/98 1%
0/0 0%
Other Solid Cancers
0/94 0%
15/1515 1%
Head and Neck Carcinoma
0/85 0%
14/1574 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
20/2550 1%
Gastric Carcinoma
0/74 0%
12/1809 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Hepatocellular Carcinoma
1/46 2%
10/2210 0%
Osteosarcoma
1/45 2%
0/166 0%
Ovarian Carcinoma
2/109 2%
3/998 0%
Medulloblastoma
0/0 0%
2/450 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Meningioma
1/3 33%
0/252 0%
Breast Carcinoma
3/144 2%
10/3264 0%
Non-Cancerous
0/104 0%
3/830 0%
Glioma
0/52 0%
7/2127 0%
Ewings Sarcoma
0/63 0%
1/262 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
6/2534 0%

Mutation Distribution

Where EPS15 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in EPS15 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 674 mutations in EPS15

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