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 | 269 | 38 | 223 |
| Samples | 104 | 21 | 79 |
| Peptides | 107 | 18 | 86 |
Function
APH1A · Aph-1A gamma-secretase subunit
This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011].
Isoforms & Proteins
3 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 81 amino-acid changes on canonical ENST00000369109 · 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 APH1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in APH1A – 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 |
|---|---|---|
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 4/612 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 9/1390 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Melanoma | 0/210 0% | 8/1899 0% |
| Colorectal Carcinoma | 5/143 4% | 6/3239 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 6/2550 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Breast Carcinoma | 0/144 0% | 6/3264 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Prostate Carcinoma | 1/13 8% | 2/2105 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
Mutation Distribution
Where APH1A is mutated · all tissues, split by cell line vs tissue
How many mutations in APH1A 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 269 mutations in APH1A
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 |
|---|