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 | 1,587 | 148 | 1,391 |
| Samples | 212 | 33 | 169 |
| Peptides | 207 | 20 | 181 |
Function
ALDH7A1 · Aldehyde dehydrogenase 7 family member A1
The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011].
Isoforms & Proteins
9 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 |
|---|---|---|---|
| ENST00000409134 | P49419 | 215 | 156 |
| ENST00000636879 | A0A1B0GW77* | 195 | 149 |
| ENST00000637272 | A0A1B0GTG2* | 195 | 149 |
| ENST00000637782 | A0A1B0GUA1* | 190 | 147 |
| ENST00000636743 | A0A1B0GTJ4* | 189 | 143 |
| ENST00000636886 | A0A1B0GV49* | 170 | 127 |
| ENST00000637206 | A0A1B0GTY9* | 170 | 133 |
| ENST00000553117 | P49419-4 | 169 | 131 |
| ENST00000413020 | A0A0J9YWF7* | 94 | 77 |
Gene Properties
Recurrent Mutations
All 156 amino-acid changes on canonical ENST00000409134 · 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 ALDH7A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ALDH7A1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 4/42 10% | 10/612 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Melanoma | 0/210 0% | 31/1899 2% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 10/1390 1% |
| Other Solid Cancers | 0/94 0% | 14/1515 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Colorectal Carcinoma | 4/143 3% | 19/3239 1% |
| Ovarian Carcinoma | 1/109 1% | 6/998 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Gastric Carcinoma | 0/74 0% | 7/1809 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 7/2550 0% |
| Glioma | 2/52 4% | 5/2127 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 5/2534 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Other Blood Cancers | 1/61 2% | 5/2725 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Breast Carcinoma | 3/144 2% | 3/3264 0% |
Mutation Distribution
Where ALDH7A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ALDH7A1 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 1,587 mutations in ALDH7A1
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 |
|---|