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 | 94 | 25 | 67 |
| Samples | 87 | 21 | 64 |
| Peptides | 67 | 18 | 52 |
Function
RLN1 · Relaxin 1
Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000223862 | P04808 | 94 | 67 |
Gene Properties
Recurrent Mutations
All 67 amino-acid changes on canonical ENST00000223862 · 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 RLN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RLN1 – 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 |
|---|---|---|
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 5/210 2% | 8/1899 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Gastric Carcinoma | 2/74 3% | 5/1809 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Colorectal Carcinoma | 1/143 1% | 10/3239 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Neuroblastoma | 2/87 2% | 2/1331 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 1/1390 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Endometrial Carcinoma | 0/42 0% | 1/612 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Head and Neck Carcinoma | 1/85 1% | 1/1574 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 1/2534 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 0/2640 0% |
Mutation Distribution
Where RLN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RLN1 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 45 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 94 mutations in RLN1
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 |
|---|