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 | 365 | 56 | 296 |
| Samples | 179 | 38 | 138 |
| Peptides | 151 | 32 | 120 |
Function
GLIS2 · GLIS family zinc finger 2
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010].
Isoforms & Proteins
2 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 151 amino-acid changes on canonical ENST00000433375 · 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 GLIS2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GLIS2 – 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% |
| Endometrial Carcinoma | 2/42 5% | 9/612 1% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Melanoma | 4/210 2% | 16/1899 1% |
| Colorectal Carcinoma | 6/143 4% | 26/3239 1% |
| Gastric Carcinoma | 3/74 4% | 11/1809 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Ovarian Carcinoma | 3/109 3% | 2/998 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 6/1390 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Pancreatic Carcinoma | 1/89 1% | 3/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 6/2534 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Cancerous | 1/104 1% | 1/830 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
Mutation Distribution
Where GLIS2 is mutated · all tissues, split by cell line vs tissue
How many mutations in GLIS2 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 365 mutations in GLIS2
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 |
|---|