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 | 1,598 | 283 | 1,285 |
| Samples | 745 | 161 | 567 |
| Peptides | 585 | 123 | 470 |
Function
ROBO3 · Roundabout guidance receptor 3
This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019].
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 576 amino-acid changes on canonical ENST00000397801 · 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 ROBO3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ROBO3 – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 29/612 5% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 33/810 4% |
| Non-Small Cell Lung Carcinoma | 30/304 10% | 40/1390 3% |
| Melanoma | 10/210 5% | 76/1899 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Colorectal Carcinoma | 22/143 15% | 82/3239 3% |
| Plasma Cell Myeloma | 6/44 14% | 2/305 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Chondrosarcoma | 1/14 7% | 1/75 1% |
| Hodgkins Lymphoma | 3/16 19% | 0/122 0% |
| Gastric Carcinoma | 2/74 3% | 38/1809 2% |
| Other Solid Cancers | 4/94 4% | 29/1515 2% |
| Neuroendocrine Tumour | 10/154 6% | 4/577 1% |
| Biliary Tract Carcinoma | 0/54 0% | 19/950 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 14/752 2% |
| Mesothelioma | 1/62 2% | 3/165 2% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Germ Cell Tumour | 3/25 12% | 0/169 0% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Ovarian Carcinoma | 4/109 4% | 11/998 1% |
| Bladder Carcinoma | 0/58 0% | 12/956 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 19/1592 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Head and Neck Carcinoma | 3/85 4% | 15/1574 1% |
| Non-Cancerous | 1/104 1% | 9/830 1% |
Mutation Distribution
Where ROBO3 is mutated · all tissues, split by cell line vs tissue
How many mutations in ROBO3 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 1,598 mutations in ROBO3
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 |
|---|