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 | 723 | 72 | 635 |
| Samples | 214 | 49 | 162 |
| Peptides | 165 | 31 | 135 |
Function
NKX2-1 · NK2 homeobox 1
This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014].
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 159 amino-acid changes on canonical ENST00000354822 · 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 NKX2-1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NKX2-1 – 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% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 5/612 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 20/1592 1% |
| Gastric Carcinoma | 3/74 4% | 19/1809 1% |
| Esophageal Carcinoma | 2/23 9% | 5/769 1% |
| Melanoma | 2/210 1% | 16/1899 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 4/810 0% |
| Colorectal Carcinoma | 4/143 3% | 18/3239 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 6/1390 0% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Other Solid Cancers | 2/94 2% | 8/1515 1% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Glioma | 0/52 0% | 8/2127 0% |
| Ovarian Carcinoma | 4/109 4% | 0/998 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 2/2640 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 4/2534 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
Mutation Distribution
Where NKX2-1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NKX2-1 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 49 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 723 mutations in NKX2-1
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 |
|---|