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 | 1,802 | 228 | 1,510 |
| Samples | 659 | 121 | 525 |
| Peptides | 548 | 90 | 441 |
Function
NISCH · Nischarin
This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013].
Isoforms & Proteins
4 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 531 amino-acid changes on canonical ENST00000345716 · 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 NISCH · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NISCH – 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 | 12/40 30% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 32/612 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Colorectal Carcinoma | 23/143 16% | 94/3239 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Gastric Carcinoma | 5/74 7% | 49/1809 3% |
| Other Solid Cancers | 6/94 6% | 40/1515 3% |
| Melanoma | 6/210 3% | 51/1899 3% |
| Bladder Carcinoma | 1/58 2% | 25/956 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Non-Small Cell Lung Carcinoma | 18/304 6% | 20/1390 1% |
| Cervical Carcinoma | 0/35 0% | 10/422 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 16/810 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Esophageal Carcinoma | 1/23 4% | 10/769 1% |
| Non-Cancerous | 1/104 1% | 12/830 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Head and Neck Carcinoma | 3/85 4% | 16/1574 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 17/1592 1% |
| Neuroendocrine Tumour | 2/154 1% | 6/577 1% |
| Ovarian Carcinoma | 3/109 3% | 9/998 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 19/2550 1% |
| Glioma | 0/52 0% | 17/2127 1% |
| Hepatocellular Carcinoma | 0/46 0% | 16/2210 1% |
| Prostate Carcinoma | 0/13 0% | 15/2105 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Pancreatic Carcinoma | 3/89 3% | 6/1611 0% |
Mutation Distribution
Where NISCH is mutated · all tissues, split by cell line vs tissue
How many mutations in NISCH 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 1,802 mutations in NISCH
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 |
|---|