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 | 206 | 44 | 160 |
| Samples | 196 | 43 | 151 |
| Peptides | 150 | 29 | 127 |
Function
ATG4D · Autophagy related 4D cysteine peptidase
Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
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 |
|---|---|---|---|
| ENST00000309469 | Q86TL0 | 206 | 150 |
Gene Properties
Recurrent Mutations
All 150 amino-acid changes on canonical ENST00000309469 · 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 ATG4D · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATG4D – 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-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 5/612 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Colorectal Carcinoma | 6/143 4% | 27/3239 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Melanoma | 2/210 1% | 14/1899 1% |
| Gastric Carcinoma | 4/74 5% | 10/1809 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 5/1390 0% |
| Ovarian Carcinoma | 2/109 2% | 5/998 0% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Other Solid Cancers | 1/94 1% | 7/1515 0% |
| Non-Cancerous | 1/104 1% | 3/830 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Glioma | 0/52 0% | 8/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 0/144 0% | 8/3264 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Pancreatic Carcinoma | 2/89 2% | 0/1611 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
Mutation Distribution
Where ATG4D is mutated · all tissues, split by cell line vs tissue
How many mutations in ATG4D 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 206 mutations in ATG4D
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 |
|---|