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 | 306 | 67 | 232 |
| Samples | 179 | 43 | 134 |
| Peptides | 150 | 27 | 124 |
Function
RETREG1 · Reticulophagy regulator 1
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011].
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 141 amino-acid changes on canonical ENST00000306320 · 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 RETREG1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RETREG1 – 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-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 11/612 2% |
| Mesothelioma | 4/62 6% | 0/165 0% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 11/1390 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Melanoma | 1/210 0% | 15/1899 1% |
| Colorectal Carcinoma | 1/143 1% | 22/3239 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 4/810 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Gastric Carcinoma | 1/74 1% | 9/1809 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Prostate Carcinoma | 2/13 15% | 9/2105 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Head and Neck Carcinoma | 4/85 5% | 2/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Breast Carcinoma | 2/144 1% | 6/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Other Solid Cancers | 1/94 1% | 2/1515 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 3/2534 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 3/2550 0% |
| Kidney Carcinoma | 1/85 1% | 2/1862 0% |
Mutation Distribution
Where RETREG1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RETREG1 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.
Mutations
All 306 mutations in RETREG1
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 |
|---|