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 | 5,458 | 622 | 4,760 |
| Samples | 2,035 | 328 | 1,669 |
| Peptides | 2,045 | 303 | 1,787 |
Function
ANK3 · Ankyrin 3
Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. 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. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000280772 | Q12955 | 2,864 | 1,928 |
| ENST00000373827 | Q12955-5 | 1,016 | 746 |
| ENST00000503366 | Q12955-4 | 1,014 | 747 |
| ENST00000355288 | Q12955-6 | 490 | 380 |
| ENST00000460468 | - | 45 | 31 |
| ENST00000486349 | A0A087X0L3* | 29 | 18 |
Gene Properties
Recurrent Mutations
All 1928 amino-acid changes on canonical ENST00000280772 · 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 ANK3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ANK3 – 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 | 12/40 30% | 0/0 0% |
| Melanoma | 46/210 22% | 428/1899 23% |
| Endometrial Carcinoma | 9/42 21% | 66/612 11% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Bladder Carcinoma | 8/58 14% | 60/956 6% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Colorectal Carcinoma | 41/143 29% | 181/3239 6% |
| Other Solid Cancers | 11/94 12% | 92/1515 6% |
| Non-Small Cell Lung Carcinoma | 36/304 12% | 72/1390 5% |
| Gastric Carcinoma | 5/74 7% | 112/1809 6% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 39/810 5% |
| Cervical Carcinoma | 5/35 14% | 18/422 4% |
| Neuroendocrine Tumour | 15/154 10% | 20/577 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Hodgkins Lymphoma | 0/16 0% | 5/122 4% |
| Small Cell Lung Carcinoma | 1/9 11% | 26/752 3% |
| Esophageal Carcinoma | 0/23 0% | 27/769 4% |
| Ovarian Carcinoma | 13/109 12% | 22/998 2% |
| Germ Cell Tumour | 3/25 12% | 3/169 2% |
| Hepatocellular Carcinoma | 7/46 15% | 62/2210 3% |
| Biliary Tract Carcinoma | 2/54 4% | 28/950 3% |
| Rhabdomyosarcoma | 0/33 0% | 6/171 4% |
| Head and Neck Carcinoma | 8/85 9% | 40/1574 3% |
| Osteosarcoma | 6/45 13% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 69/2550 3% |
| Mesothelioma | 5/62 8% | 1/165 1% |
| Adrenocortical Carcinoma | 0/3 0% | 3/112 3% |
Mutation Distribution
Where ANK3 is mutated · all tissues, split by cell line vs tissue
How many mutations in ANK3 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 5,458 mutations in ANK3
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 |
|---|