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 | 148 | 37 | 109 |
| Samples | 141 | 36 | 103 |
| Peptides | 112 | 27 | 87 |
Function
NKX2-6 · NK2 homeobox 6
This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 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 |
|---|---|---|---|
| ENST00000325017 | A6NCS4 | 148 | 112 |
Gene Properties
Recurrent Mutations
All 112 amino-acid changes on canonical ENST00000325017 · 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 NKX2-6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NKX2-6 – 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 | 4/40 10% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastric Carcinoma | 0/74 0% | 22/1809 1% |
| Endometrial Carcinoma | 1/42 2% | 5/612 1% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Colorectal Carcinoma | 8/143 6% | 12/3239 0% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Melanoma | 3/210 1% | 7/1899 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 3/1390 0% |
| Other Solid Cancers | 1/94 1% | 4/1515 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Hepatocellular Carcinoma | 1/46 2% | 5/2210 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 5/2550 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 0/2640 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
Mutation Distribution
Where NKX2-6 is mutated · all tissues, split by cell line vs tissue
How many mutations in NKX2-6 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 4 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 148 mutations in NKX2-6
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 |
|---|