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 | 3,281 | 235 | 3,032 |
| Samples | 445 | 61 | 382 |
| Peptides | 200 | 43 | 158 |
Function
AQP7 · Aquaporin 7
This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015].
Isoforms & Proteins
6 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 165 amino-acid changes on canonical ENST00000297988 · 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 AQP7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AQP7 – 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% | 7/133 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 50/1592 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Bladder Carcinoma | 1/58 2% | 24/956 3% |
| Endometrial Carcinoma | 6/42 14% | 8/612 1% |
| Colorectal Carcinoma | 16/143 11% | 50/3239 2% |
| Other Solid Cancers | 0/94 0% | 29/1515 2% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 42/2534 2% |
| Melanoma | 6/210 3% | 22/1899 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 16/1390 1% |
| Biliary Tract Carcinoma | 0/54 0% | 12/950 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 4/752 1% |
| Gastric Carcinoma | 0/74 0% | 13/1809 1% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Glioma | 2/52 4% | 11/2127 1% |
| Breast Carcinoma | 0/144 0% | 18/3264 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Kidney Carcinoma | 3/85 4% | 6/1862 0% |
| Other Blood Cancers | 1/61 2% | 10/2725 0% |
| Prostate Carcinoma | 0/13 0% | 8/2105 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 8/2550 0% |
Mutation Distribution
Where AQP7 is mutated · all tissues, split by cell line vs tissue
How many mutations in AQP7 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 3,281 mutations in AQP7
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 |
|---|