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 | 387 | 62 | 317 |
| Samples | 317 | 55 | 255 |
| Peptides | 261 | 39 | 222 |
Function
CHM · CHM Rab escort protein
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016].
Isoforms & Proteins
2 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 259 amino-acid changes on canonical ENST00000357749 · 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 CHM · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHM – 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% |
| Endometrial Carcinoma | 3/42 7% | 30/612 5% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 3/35 9% | 5/422 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 25/1390 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Melanoma | 4/210 2% | 21/1899 1% |
| Colorectal Carcinoma | 16/143 11% | 23/3239 1% |
| Gastric Carcinoma | 2/74 3% | 19/1809 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 7/810 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Glioma | 1/52 2% | 17/2127 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Head and Neck Carcinoma | 1/85 1% | 8/1574 1% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Non-Cancerous | 1/104 1% | 3/830 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Breast Carcinoma | 0/144 0% | 13/3264 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 9/2534 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Biliary Tract Carcinoma | 1/54 2% | 2/950 0% |
Mutation Distribution
Where CHM is mutated · all tissues, split by cell line vs tissue
How many mutations in CHM 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 387 mutations in CHM
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 |
|---|