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 | 623 | 106 | 511 |
| Samples | 306 | 67 | 235 |
| Peptides | 238 | 41 | 197 |
Function
PDCD6IP · Programmed cell death 6 interacting protein
This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012].
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.
Gene Properties
Recurrent Mutations
All 231 amino-acid changes on canonical ENST00000307296 · 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 PDCD6IP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PDCD6IP – 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% |
| Endometrial Carcinoma | 3/42 7% | 17/612 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 12/1390 1% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Melanoma | 4/210 2% | 26/1899 1% |
| Bladder Carcinoma | 4/58 7% | 10/956 1% |
| Colorectal Carcinoma | 9/143 6% | 35/3239 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 8/810 1% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Other Solid Cancers | 0/94 0% | 15/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Gastric Carcinoma | 0/74 0% | 17/1809 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Non-Cancerous | 2/104 2% | 5/830 1% |
| Hepatocellular Carcinoma | 1/46 2% | 14/2210 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Ovarian Carcinoma | 2/109 2% | 3/998 0% |
| Kidney Carcinoma | 2/85 2% | 6/1862 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Prostate Carcinoma | 2/13 15% | 6/2105 0% |
| Glioma | 0/52 0% | 8/2127 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 5/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
Mutation Distribution
Where PDCD6IP is mutated · all tissues, split by cell line vs tissue
How many mutations in PDCD6IP 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 623 mutations in PDCD6IP
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 |
|---|