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 | 2,141 | 274 | 1,851 |
| Samples | 698 | 132 | 559 |
| Peptides | 527 | 88 | 452 |
Function
ANO3 · Anoctamin 3
The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000256737 | Q9BYT9 | 753 | 505 |
| ENST00000525139 | E9PQ79* | 675 | 479 |
| ENST00000531568 | Q9BYT9-2 | 544 | 398 |
| ENST00000531646 | E9PKW2* | 164 | 113 |
| ENST00000672621 | A0A5F9ZHL6* | 5 | 5 |
Gene Properties
Recurrent Mutations
All 505 amino-acid changes on canonical ENST00000256737 · 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 ANO3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ANO3 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 9/210 4% | 90/1899 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 34/810 4% |
| Endometrial Carcinoma | 4/42 10% | 22/612 4% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 42/1390 3% |
| Colorectal Carcinoma | 21/143 15% | 71/3239 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 17/752 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Gastric Carcinoma | 1/74 1% | 39/1809 2% |
| Other Solid Cancers | 4/94 4% | 30/1515 2% |
| Germ Cell Tumour | 4/25 16% | 0/169 0% |
| Bladder Carcinoma | 3/58 5% | 16/956 2% |
| Neuroendocrine Tumour | 8/154 5% | 5/577 1% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 29/2550 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Meningioma | 1/3 33% | 2/252 1% |
| Biliary Tract Carcinoma | 0/54 0% | 11/950 1% |
| Ovarian Carcinoma | 3/109 3% | 9/998 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Cancerous | 3/104 3% | 6/830 1% |
| Hepatocellular Carcinoma | 0/46 0% | 20/2210 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Other Sarcomas | 0/69 0% | 6/699 1% |
| Esophageal Carcinoma | 1/23 4% | 5/769 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 15/2534 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
Mutation Distribution
Where ANO3 is mutated · all tissues, split by cell line vs tissue
How many mutations in ANO3 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 53 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 2,141 mutations in ANO3
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 |
|---|