HADHB
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta P55084 ECHB_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 | 740 | 84 | 655 |
| Samples | 220 | 42 | 177 |
| Peptides | 181 | 27 | 161 |
Function
HADHB · Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
This gene encodes the beta 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 beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. 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. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].
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.
Gene Properties
Recurrent Mutations
All 156 amino-acid changes on canonical ENST00000317799 · 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 HADHB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HADHB – 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% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 12/612 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 9/143 6% | 29/3239 1% |
| Melanoma | 5/210 2% | 18/1899 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Other Solid Cancers | 2/94 2% | 9/1515 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
| Kidney Carcinoma | 1/85 1% | 12/1862 1% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 11/1390 1% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Hepatocellular Carcinoma | 2/46 4% | 9/2210 0% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 11/2550 0% |
| Head and Neck Carcinoma | 2/85 2% | 5/1574 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Breast Carcinoma | 3/144 2% | 9/3264 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
Mutation Distribution
Where HADHB is mutated · all tissues, split by cell line vs tissue
How many mutations in HADHB 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 740 mutations in HADHB
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 |
|---|