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 | 566 | 50 | 516 |
| Samples | 83 | 13 | 70 |
| Peptides | 101 | 21 | 80 |
Function
GHRL · Ghrelin and obestatin prepropeptide
This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014].
Isoforms & Proteins
10 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000335542 | Q9UBU3 | 74 | 49 |
| ENST00000287656 | Q9UBU3-2 | 68 | 46 |
| ENST00000429122 | Q9UBU3 | 68 | 46 |
| ENST00000430179 | Q9UBU3-2 | 68 | 46 |
| ENST00000457360 | Q9UBU3 | 68 | 46 |
| ENST00000437422 | Q9UBU3-3 | 64 | 41 |
| ENST00000449238 | Q9UBU3-4 | 64 | 41 |
| ENST00000422159 | Q9UBU3-6 | 52 | 33 |
| ENST00000439975 | Q9UBU3-5 | 28 | 22 |
| ENST00000446937 | A8DN24* | 12 | 9 |
Gene Properties
Recurrent Mutations
All 49 amino-acid changes on canonical ENST00000335542 · 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 GHRL · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GHRL – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 7/612 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Melanoma | 3/210 1% | 13/1899 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Bladder Carcinoma | 2/58 3% | 4/956 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
| Colorectal Carcinoma | 0/143 0% | 10/3239 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Gastric Carcinoma | 0/74 0% | 4/1809 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 2/1390 0% |
| Other Solid Cancers | 0/94 0% | 2/1515 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
Mutation Distribution
Where GHRL is mutated · all tissues, split by cell line vs tissue
How many mutations in GHRL 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 566 mutations in GHRL
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 |
|---|