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 | 3,366 | 367 | 2,946 |
| Samples | 1,350 | 217 | 1,109 |
| Peptides | 883 | 143 | 764 |
Function
ALK · ALK receptor tyrosine kinase
This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000389048 | Q9UM73 | 1,568 | 874 |
| ENST00000618119 | A0A087WZL3* | 1,168 | 643 |
| ENST00000642122 | A0A0K2YUJ3* | 630 | 262 |
Gene Properties
Recurrent Mutations
All 874 amino-acid changes on canonical ENST00000389048 · 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 ALK · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ALK – 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% | 49/133 37% |
| Neuroblastoma | 17/87 20% | 127/1331 10% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Melanoma | 25/210 12% | 155/1899 8% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 47/304 15% | 57/1390 4% |
| Endometrial Carcinoma | 4/42 10% | 33/612 5% |
| Colorectal Carcinoma | 30/143 21% | 144/3239 4% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 32/810 4% |
| Neuroendocrine Tumour | 9/154 6% | 18/577 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 27/752 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Other Solid Cancers | 5/94 5% | 45/1515 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastric Carcinoma | 2/74 3% | 55/1809 3% |
| Cervical Carcinoma | 0/35 0% | 12/422 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Biliary Tract Carcinoma | 0/54 0% | 25/950 3% |
| Bladder Carcinoma | 0/58 0% | 24/956 3% |
| Esophageal Carcinoma | 0/23 0% | 17/769 2% |
| Germ Cell Tumour | 2/25 8% | 2/169 1% |
| Other Sarcomas | 4/69 6% | 11/699 2% |
| Hepatocellular Carcinoma | 2/46 4% | 41/2210 2% |
| Osteosarcoma | 2/45 4% | 2/166 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Ovarian Carcinoma | 7/109 6% | 13/998 1% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 41/2550 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Head and Neck Carcinoma | 2/85 2% | 25/1574 2% |
Mutation Distribution
Where ALK is mutated · all tissues, split by cell line vs tissue
How many mutations in ALK 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 3,366 mutations in ALK
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 |
|---|