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 | 482 | 17 | 465 |
| Samples | 94 | 17 | 77 |
| Peptides | 64 | 6 | 58 |
Function
ISCU · Iron-sulfur cluster assembly enzyme
This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016].
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.
Gene Properties
Recurrent Mutations
All 45 amino-acid changes on canonical ENST00000311893 · 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 ISCU · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ISCU – 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 | 2/40 5% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Neuroendocrine Tumour | 1/154 1% | 3/577 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 5/1592 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 6/1390 0% |
| Hepatocellular Carcinoma | 1/46 2% | 7/2210 0% |
| Melanoma | 0/210 0% | 7/1899 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Colorectal Carcinoma | 2/143 1% | 7/3239 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Kidney Carcinoma | 1/85 1% | 2/1862 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Gastric Carcinoma | 1/74 1% | 1/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 2/2550 0% |
| Other Solid Cancers | 1/94 1% | 0/1515 0% |
| Glioma | 0/52 0% | 1/2127 0% |
Mutation Distribution
Where ISCU is mutated · all tissues, split by cell line vs tissue
How many mutations in ISCU 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 482 mutations in ISCU
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 |
|---|