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 | 1,932 | 342 | 1,538 |
| Samples | 853 | 189 | 642 |
| Peptides | 728 | 135 | 589 |
Function
RTTN · Rotatin
This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013].
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 716 amino-acid changes on canonical ENST00000640769 · 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 RTTN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RTTN – 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 | 14/40 35% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 35/612 6% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 41/810 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Melanoma | 5/210 2% | 81/1899 4% |
| Non-Small Cell Lung Carcinoma | 30/304 10% | 38/1390 3% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Burkitts Lymphoma | 6/32 19% | 2/196 1% |
| Colorectal Carcinoma | 28/143 20% | 81/3239 2% |
| Bladder Carcinoma | 0/58 0% | 27/956 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 18/752 2% |
| Plasma Cell Myeloma | 5/44 11% | 3/305 1% |
| Gastric Carcinoma | 0/74 0% | 43/1809 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Biliary Tract Carcinoma | 1/54 2% | 20/950 2% |
| Neuroendocrine Tumour | 9/154 6% | 6/577 1% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Other Solid Cancers | 2/94 2% | 27/1515 2% |
| Other Sarcomas | 6/69 9% | 7/699 1% |
| Ovarian Carcinoma | 8/109 7% | 10/998 1% |
| Hepatocellular Carcinoma | 1/46 2% | 33/2210 1% |
| Head and Neck Carcinoma | 4/85 5% | 21/1574 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Kidney Carcinoma | 6/85 7% | 21/1862 1% |
| Ewings Sarcoma | 3/63 5% | 1/262 0% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Breast Carcinoma | 13/144 9% | 25/3264 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
Mutation Distribution
Where RTTN is mutated · all tissues, split by cell line vs tissue
How many mutations in RTTN 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 1,932 mutations in RTTN
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 |
|---|