Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 3,701 | 670 | 2,986 |
| Samples | 1,618 | 340 | 1,261 |
| Peptides | 1,129 | 256 | 917 |
Function
EPPK1 · Epiplakin 1
The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000615648 | P58107 | 1,949 | 1,124 |
| ENST00000568225 | A0A075B730* | 1,752 | 1,030 |
Gene Properties
Recurrent Mutations
All 1138 amino-acid changes on canonical ENST00000615648 · needle height = samples · drag the mini-map to zoom
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 EPPK1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in EPPK1 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 13/40 32% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Melanoma | 28/210 13% | 193/1899 10% |
| Endometrial Carcinoma | 15/42 36% | 52/612 8% |
| Acute Myeloid Leukemia | 9/90 10% | 0/0 0% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 41/304 13% | 78/1390 6% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 9/133 7% |
| Colorectal Carcinoma | 33/143 23% | 181/3239 6% |
| Gastric Carcinoma | 8/74 11% | 87/1809 5% |
| Other Solid Cancers | 12/94 13% | 57/1515 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Bladder Carcinoma | 6/58 10% | 33/956 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Ewings Sarcoma | 3/63 5% | 9/262 3% |
| Neuroendocrine Tumour | 18/154 12% | 8/577 1% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 21/810 3% |
| Burkitts Lymphoma | 3/32 9% | 4/196 2% |
| Cervical Carcinoma | 1/35 3% | 13/422 3% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 73/2550 3% |
| Hodgkins Lymphoma | 3/16 19% | 1/122 1% |
| Thyroid Gland Carcinoma | 5/45 11% | 39/1592 2% |
| Esophageal Carcinoma | 0/23 0% | 21/769 3% |
| Head and Neck Carcinoma | 7/85 8% | 35/1574 2% |
| Glioma | 4/52 8% | 51/2127 2% |
| Biliary Tract Carcinoma | 3/54 6% | 20/950 2% |
| Ovarian Carcinoma | 14/109 13% | 11/998 1% |
| Non-Cancerous | 1/104 1% | 20/830 2% |
| Other Sarcomas | 10/69 14% | 7/699 1% |
Mutation Distribution
Where EPPK1 is mutated · all tissues, split by cell line vs tissue
How many mutations in EPPK1 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
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 3,701 mutations in EPPK1
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|