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 | 350 | 48 | 300 |
| Samples | 331 | 46 | 283 |
| Peptides | 217 | 30 | 196 |
Function
DPPA4 · Developmental pluripotency associated 4
This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000335658 | Q7L190 | 350 | 217 |
Gene Properties
Recurrent Mutations
All 217 amino-acid changes on canonical ENST00000335658 · 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 DPPA4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DPPA4 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 28/810 3% |
| Melanoma | 9/210 4% | 53/1899 3% |
| Other Solid Cancers | 1/94 1% | 35/1515 2% |
| Meningioma | 0/3 0% | 4/252 2% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 15/1390 1% |
| Endometrial Carcinoma | 1/42 2% | 8/612 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Head and Neck Carcinoma | 2/85 2% | 13/1574 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Plasma Cell Myeloma | 3/44 7% | 0/305 0% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Colorectal Carcinoma | 7/143 5% | 21/3239 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 8/1592 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 11/2550 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Hepatocellular Carcinoma | 2/46 4% | 7/2210 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Kidney Carcinoma | 2/85 2% | 1/1862 0% |
| Other Blood Cancers | 0/61 0% | 4/2725 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 3/2534 0% |
Mutation Distribution
Where DPPA4 is mutated · all tissues, split by cell line vs tissue
How many mutations in DPPA4 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 38 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 350 mutations in DPPA4
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 |
|---|