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 | 313 | 53 | 252 |
| Samples | 198 | 43 | 151 |
| Peptides | 161 | 29 | 134 |
Function
NKX2-5 · NK2 homeobox 5
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
Isoforms & Proteins
3 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 148 amino-acid changes on canonical ENST00000329198 · 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 NKX2-5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NKX2-5 – 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% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 14/1390 1% |
| Colorectal Carcinoma | 9/143 6% | 30/3239 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 0/74 0% | 18/1809 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Melanoma | 3/210 1% | 16/1899 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Bladder Carcinoma | 1/58 2% | 4/956 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Endometrial Carcinoma | 1/42 2% | 1/612 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Neuroblastoma | 0/87 0% | 3/1331 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Head and Neck Carcinoma | 2/85 2% | 1/1574 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 0/2534 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
Mutation Distribution
Where NKX2-5 is mutated · all tissues, split by cell line vs tissue
How many mutations in NKX2-5 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 51 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 313 mutations in NKX2-5
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 |
|---|