RGN

Regucalcin Q15493 RGN_HUMAN
Protein Coding Chr X Xp11.3 Swiss-Prot reviewed Entrez 9104
Mutations
445
CL 68 · Tissue 372
Samples
132
CL 30 · Tissue 100
Peptides
105
unique mutant peptides
Transcripts
4
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations44568372
Samples13230100
Peptides1051789

Function

RGN · Regucalcin

The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].

Isoforms & Proteins

4 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000397180 Q15493 131 97
ENST00000352078 Q15493 118 92
ENST00000336169 Q15493 117 91
ENST00000457380 Q15493-2 79 62

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xp11.3
Entrez ID
Aliases
GNLHEL-S-41RCSMP30

Recurrent Mutations

All 97 amino-acid changes on canonical ENST00000397180 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 RGN · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RGN – 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 typeCell linesTissue samples
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
3/42 7%
9/612 1%
Melanoma
5/210 2%
18/1899 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
4/304 1%
7/1390 0%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Cervical Carcinoma
1/35 3%
1/422 0%
Glioma
1/52 2%
8/2127 0%
Colorectal Carcinoma
2/143 1%
11/3239 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Gastric Carcinoma
1/74 1%
4/1809 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
5/2550 0%
Medulloblastoma
0/0 0%
1/450 0%
Non-Cancerous
2/104 2%
0/830 0%
Breast Carcinoma
0/144 0%
7/3264 0%
Bladder Carcinoma
0/58 0%
2/956 0%
Other Solid Cancers
0/94 0%
3/1515 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Other Sarcomas
0/69 0%
1/699 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%
B-Lymphoblastic Leukemia
1/55 2%
2/2640 0%
Kidney Carcinoma
1/85 1%
1/1862 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%

Mutation Distribution

Where RGN is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in RGN 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 445 mutations in RGN

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide