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 | 127 | 12 | 115 |
| Samples | 125 | 12 | 113 |
| Peptides | 108 | 12 | 96 |
Function
ISY1-RAB43 · ISY1-RAB43 readthrough
This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000418265 | Q9ULR0-1 | 127 | 108 |
Gene Properties
Recurrent Mutations
All 108 amino-acid changes on canonical ENST00000418265 · 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 ISY1-RAB43 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ISY1-RAB43 – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 6/612 1% |
| Other Solid Cancers | 0/94 0% | 15/1515 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 4/752 1% |
| Melanoma | 0/210 0% | 14/1899 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 10/1390 1% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Kidney Carcinoma | 1/85 1% | 6/1862 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Colorectal Carcinoma | 1/143 1% | 10/3239 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 2/2550 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Breast Carcinoma | 1/144 1% | 1/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
Mutation Distribution
Where ISY1-RAB43 is mutated · all tissues, split by cell line vs tissue
How many mutations in ISY1-RAB43 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.
Mutations
All 127 mutations in ISY1-RAB43
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 |
|---|