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 | 332 | 51 | 277 |
| Samples | 106 | 28 | 77 |
| Peptides | 79 | 19 | 66 |
Function
GCH1 · GTP cyclohydrolase 1
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008].
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 65 amino-acid changes on canonical ENST00000491895 · 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 GCH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GCH1 – 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% |
| Endometrial Carcinoma | 5/42 12% | 5/612 1% |
| Bladder Carcinoma | 1/58 2% | 7/956 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 8/1592 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Colorectal Carcinoma | 5/143 4% | 10/3239 0% |
| Cervical Carcinoma | 2/35 6% | 0/422 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Gastric Carcinoma | 1/74 1% | 4/1809 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Melanoma | 0/210 0% | 5/1899 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Cancerous | 1/104 1% | 1/830 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 3/1390 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 0/2640 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 1/2534 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where GCH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in GCH1 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 332 mutations in GCH1
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 |
|---|