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 | 142 | 36 | 96 |
| Samples | 109 | 29 | 71 |
| Peptides | 90 | 19 | 71 |
Function
CHAC1 · ChaC glutathione specific gamma-glutamylcyclotransferase 1
This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016].
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.
Gene Properties
Recurrent Mutations
All 87 amino-acid changes on canonical ENST00000617768 · 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 CHAC1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHAC1 – 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% |
| Endometrial Carcinoma | 1/42 2% | 7/612 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Melanoma | 7/210 3% | 7/1899 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Colorectal Carcinoma | 4/143 3% | 10/3239 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 1/810 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 2/1390 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 2/2550 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
Mutation Distribution
Where CHAC1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CHAC1 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 142 mutations in CHAC1
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 |
|---|