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 | 1,713 | 340 | 1,332 |
| Samples | 387 | 101 | 279 |
| Peptides | 215 | 50 | 175 |
Function
GGT1 · Gamma-glutamyltransferase 1
The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014].
Isoforms & Proteins
7 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 193 amino-acid changes on canonical ENST00000400382 · 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 GGT1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GGT1 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Mesothelioma | 5/62 8% | 1/165 1% |
| Burkitts Lymphoma | 6/32 19% | 0/196 0% |
| Endometrial Carcinoma | 7/42 17% | 8/612 1% |
| Melanoma | 1/210 0% | 29/1899 2% |
| Osteosarcoma | 1/45 2% | 2/166 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Bladder Carcinoma | 1/58 2% | 13/956 1% |
| Neuroendocrine Tumour | 8/154 5% | 2/577 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 20/1592 1% |
| Colorectal Carcinoma | 5/143 4% | 35/3239 1% |
| Gastric Carcinoma | 4/74 5% | 18/1809 1% |
| Other Solid Cancers | 2/94 2% | 16/1515 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Hepatocellular Carcinoma | 4/46 9% | 16/2210 1% |
| Esophageal Carcinoma | 1/23 4% | 6/769 1% |
| Glioma | 2/52 4% | 17/2127 1% |
| Kidney Carcinoma | 2/85 2% | 13/1862 1% |
| Ovarian Carcinoma | 5/109 5% | 3/998 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 14/2550 1% |
| Breast Carcinoma | 6/144 4% | 16/3264 0% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Head and Neck Carcinoma | 2/85 2% | 8/1574 1% |
Mutation Distribution
Where GGT1 is mutated · all tissues, split by cell line vs tissue
How many mutations in GGT1 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 1,713 mutations in GGT1
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 |
|---|