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 | 8,341 | 926 | 7,277 |
| Samples | 2,174 | 362 | 1,767 |
| Peptides | 2,005 | 278 | 1,756 |
Function
ANK2 · Ankyrin 2
This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 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 |
|---|---|---|---|
| ENST00000357077 | Q01484 | 2,754 | 1,905 |
| ENST00000264366 | I6L894* | 2,470 | 1,812 |
| ENST00000506722 | Q01484-5 | 1,199 | 877 |
| ENST00000394537 | Q01484-2 | 1,177 | 863 |
| ENST00000509550 | E9PCH6* | 711 | 497 |
| ENST00000510275 | A0A5K1VW73* | 17 | 16 |
| ENST00000612754 | A0A087WZU3* | 8 | 8 |
| ENST00000672356 | A0A5F9ZHQ3* | 4 | 4 |
| ENST00000672830 | A0A5F9ZHD2* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 1905 amino-acid changes on canonical ENST00000357077 · 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 ANK2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ANK2 – 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-Lymphoblastic Leukemia | 8/40 20% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 67/304 22% | 175/1390 13% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 64/612 10% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 85/810 10% |
| Melanoma | 26/210 12% | 197/1899 10% |
| Other Solid Cancers | 6/94 6% | 140/1515 9% |
| Small Cell Lung Carcinoma | 3/9 33% | 60/752 8% |
| Colorectal Carcinoma | 32/143 22% | 218/3239 7% |
| Gastric Carcinoma | 17/74 23% | 121/1809 7% |
| Bladder Carcinoma | 4/58 7% | 65/956 7% |
| Cervical Carcinoma | 8/35 23% | 23/422 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 9/133 7% |
| Neuroendocrine Tumour | 29/154 19% | 18/577 3% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Hodgkins Lymphoma | 4/16 25% | 3/122 2% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Non-Cancerous | 6/104 6% | 31/830 4% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Plasma Cell Myeloma | 4/44 9% | 9/305 3% |
| Head and Neck Carcinoma | 4/85 5% | 51/1574 3% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 77/2550 3% |
| Other Sarcomas | 4/69 6% | 19/699 3% |
| Hepatocellular Carcinoma | 2/46 4% | 64/2210 3% |
| Esophageal Carcinoma | 2/23 9% | 21/769 3% |
| Ovarian Carcinoma | 8/109 7% | 22/998 2% |
| Kidney Carcinoma | 9/85 11% | 43/1862 2% |
| Unknown | 1/10 10% | 0/29 0% |
Mutation Distribution
Where ANK2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ANK2 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 8,341 mutations in ANK2
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 |
|---|