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 | 1,136 | 162 | 943 |
| Samples | 392 | 79 | 298 |
| Peptides | 380 | 70 | 309 |
Function
DDHD1 · DDHD domain containing 1
This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].
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 |
|---|---|---|---|
| ENST00000673822 | Q8NEL9 | 430 | 324 |
| ENST00000395606 | Q8NEL9-4 | 355 | 296 |
| ENST00000357758 | Q8NEL9-2 | 337 | 282 |
| ENST00000323669 | A0A6E1W401* | 14 | 13 |
Gene Properties
Recurrent Mutations
All 324 amino-acid changes on canonical ENST00000673822 · 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 DDHD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DDHD1 – 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% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 18/612 3% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 6/210 3% | 32/1899 2% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 12/810 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 24/1390 2% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Gastric Carcinoma | 2/74 3% | 25/1809 1% |
| Colorectal Carcinoma | 12/143 8% | 32/3239 1% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Other Solid Cancers | 5/94 5% | 14/1515 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Ovarian Carcinoma | 4/109 4% | 7/998 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Hepatocellular Carcinoma | 0/46 0% | 16/2210 1% |
| Head and Neck Carcinoma | 3/85 4% | 8/1574 1% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 10/1592 1% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 14/2550 1% |
| Breast Carcinoma | 9/144 6% | 9/3264 0% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
Mutation Distribution
Where DDHD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DDHD1 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 54 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 1,136 mutations in DDHD1
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 |
|---|