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 | 269 | 70 | 191 |
| Samples | 167 | 49 | 114 |
| Peptides | 117 | 25 | 93 |
Function
DLX3 · Distal-less homeobox 3
Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008].
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 116 amino-acid changes on canonical ENST00000434704 · 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 DLX3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DLX3 – 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 | 5/40 12% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 11/612 2% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Gastric Carcinoma | 2/74 3% | 15/1809 1% |
| Colorectal Carcinoma | 9/143 6% | 20/3239 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Melanoma | 4/210 2% | 10/1899 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 5/1390 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Non-Cancerous | 1/104 1% | 3/830 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Other Solid Cancers | 1/94 1% | 5/1515 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Hepatocellular Carcinoma | 3/46 7% | 4/2210 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Prostate Carcinoma | 1/13 8% | 4/2105 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Esophageal Carcinoma | 1/23 4% | 0/769 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Breast Carcinoma | 4/144 3% | 0/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
Mutation Distribution
Where DLX3 is mutated · all tissues, split by cell line vs tissue
How many mutations in DLX3 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 53 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 269 mutations in DLX3
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 |
|---|