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 | 558 | 98 | 445 |
| Samples | 530 | 96 | 423 |
| Peptides | 367 | 73 | 306 |
Function
JPH3 · Junctophilin 3
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016].
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 |
|---|---|---|---|
| ENST00000284262 | Q8WXH2 | 558 | 367 |
Gene Properties
Recurrent Mutations
All 367 amino-acid changes on canonical ENST00000284262 · 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 JPH3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in JPH3 – 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-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| Endometrial Carcinoma | 7/42 17% | 23/612 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Colorectal Carcinoma | 17/143 12% | 91/3239 3% |
| Melanoma | 9/210 4% | 52/1899 3% |
| Gastric Carcinoma | 4/74 5% | 38/1809 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 24/1390 2% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 13/810 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Neuroendocrine Tumour | 6/154 4% | 4/577 1% |
| Other Solid Cancers | 3/94 3% | 18/1515 1% |
| Non-Cancerous | 1/104 1% | 11/830 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Head and Neck Carcinoma | 1/85 1% | 15/1574 1% |
| Ovarian Carcinoma | 4/109 4% | 6/998 1% |
| Biliary Tract Carcinoma | 0/54 0% | 9/950 1% |
| Hepatocellular Carcinoma | 0/46 0% | 18/2210 1% |
| Other Sarcomas | 3/69 4% | 3/699 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 18/2550 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Pancreatic Carcinoma | 2/89 2% | 8/1611 0% |
| Glioma | 0/52 0% | 12/2127 1% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 9/2534 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
Mutation Distribution
Where JPH3 is mutated · all tissues, split by cell line vs tissue
How many mutations in JPH3 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 558 mutations in JPH3
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 |
|---|