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 | 475 | 62 | 408 |
| Samples | 160 | 32 | 126 |
| Peptides | 145 | 21 | 128 |
Function
HOXD8 · Homeobox D8
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000313173 | P13378 | 164 | 122 |
| ENST00000450510 | P13378-2 | 146 | 115 |
| ENST00000544999 | A0A0A0MTF4* | 100 | 75 |
| ENST00000429017 | A0A0A0MSX5* | 65 | 47 |
Gene Properties
Recurrent Mutations
All 122 amino-acid changes on canonical ENST00000313173 · 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 HOXD8 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HOXD8 – 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 |
|---|---|---|
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 9/612 1% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 10/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Solid Cancers | 0/94 0% | 16/1515 1% |
| Neuroendocrine Tumour | 2/154 1% | 5/577 1% |
| Bladder Carcinoma | 2/58 3% | 4/956 0% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Colorectal Carcinoma | 2/143 1% | 16/3239 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Ovarian Carcinoma | 4/109 4% | 1/998 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Melanoma | 0/210 0% | 7/1899 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 2/2534 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Breast Carcinoma | 2/144 1% | 1/3264 0% |
| Other Blood Cancers | 1/61 2% | 1/2725 0% |
Mutation Distribution
Where HOXD8 is mutated · all tissues, split by cell line vs tissue
How many mutations in HOXD8 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 45 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 475 mutations in HOXD8
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 |
|---|