HADHA
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha P40939 ECHA_HUMANStats 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 | 782 | 94 | 662 |
| Samples | 271 | 45 | 218 |
| Peptides | 235 | 38 | 190 |
Function
HADHA · Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000380649 | P40939 | 281 | 211 |
| ENST00000492433 | H0YFD6* | 259 | 201 |
| ENST00000645274 | A0A2R8Y4F5* | 242 | 184 |
Gene Properties
Recurrent Mutations
All 211 amino-acid changes on canonical ENST00000380649 · 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 HADHA · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HADHA – 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% |
| Endometrial Carcinoma | 4/42 10% | 18/612 3% |
| Colorectal Carcinoma | 8/143 6% | 42/3239 1% |
| Melanoma | 1/210 0% | 25/1899 1% |
| Other Solid Cancers | 0/94 0% | 18/1515 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Gastric Carcinoma | 1/74 1% | 16/1809 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 7/1390 0% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Neuroendocrine Tumour | 5/154 3% | 1/577 0% |
| Meningioma | 0/3 0% | 2/252 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 9/1592 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Neuroblastoma | 5/87 6% | 2/1331 0% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 4/2534 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 4/2550 0% |
Mutation Distribution
Where HADHA is mutated · all tissues, split by cell line vs tissue
How many mutations in HADHA 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 782 mutations in HADHA
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 |
|---|