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 | 446 | 81 | 350 |
| Samples | 415 | 73 | 333 |
| Peptides | 275 | 49 | 234 |
Function
DBH · Dopamine beta-hydroxylase
The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000393056 | P09172 | 446 | 275 |
Gene Properties
Recurrent Mutations
All 275 amino-acid changes on canonical ENST00000393056 · 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 DBH · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DBH – 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 | 6/40 15% | 0/0 0% |
| Melanoma | 13/210 6% | 55/1899 3% |
| Endometrial Carcinoma | 2/42 5% | 17/612 3% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Ovarian Carcinoma | 6/109 6% | 14/998 1% |
| Colorectal Carcinoma | 10/143 7% | 46/3239 1% |
| Other Solid Cancers | 1/94 1% | 25/1515 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 17/1390 1% |
| Biliary Tract Carcinoma | 2/54 4% | 10/950 1% |
| Bladder Carcinoma | 0/58 0% | 12/956 1% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 5/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 3/74 4% | 15/1809 1% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 10/1592 1% |
| Head and Neck Carcinoma | 0/85 0% | 12/1574 1% |
| Glioma | 0/52 0% | 15/2127 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Pancreatic Carcinoma | 1/89 1% | 9/1611 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 11/2550 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Wilms Tumour | 0/5 0% | 2/474 0% |
| Prostate Carcinoma | 0/13 0% | 9/2105 0% |
Mutation Distribution
Where DBH is mutated · all tissues, split by cell line vs tissue
How many mutations in DBH 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 446 mutations in DBH
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 |
|---|