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 | 2,291 | 483 | 1,773 |
| Samples | 1,832 | 379 | 1,424 |
| Peptides | 1,634 | 349 | 1,319 |
Function
HSPG2 · Heparan sulfate proteoglycan 2
This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].
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 |
|---|---|---|---|
| ENST00000374695 | P98160 | 2,291 | 1,634 |
Gene Properties
Recurrent Mutations
All 1634 amino-acid changes on canonical ENST00000374695 · 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 HSPG2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HSPG2 – 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 | 12/40 30% | 0/0 0% |
| Oral Cavity Carcinoma | 8/54 15% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Endometrial Carcinoma | 19/42 45% | 58/612 9% |
| Glioblastoma | 10/98 10% | 0/0 0% |
| Melanoma | 29/210 14% | 171/1899 9% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 54/304 18% | 77/1390 6% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Acute Monocytic Leukemia | 1/1 100% | 1/25 4% |
| Bladder Carcinoma | 9/58 16% | 62/956 6% |
| Other Solid Cancers | 7/94 7% | 97/1515 6% |
| Cervical Carcinoma | 3/35 9% | 26/422 6% |
| Neuroendocrine Tumour | 27/154 18% | 18/577 3% |
| Colorectal Carcinoma | 37/143 26% | 171/3239 5% |
| Gastric Carcinoma | 10/74 14% | 105/1809 6% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 8/133 6% |
| Hodgkins Lymphoma | 2/16 12% | 5/122 4% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 32/810 4% |
| Biliary Tract Carcinoma | 5/54 9% | 34/950 4% |
| Thyroid Gland Carcinoma | 3/45 7% | 50/1592 3% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 76/2550 3% |
| Ovarian Carcinoma | 8/109 7% | 24/998 2% |
| Glioma | 3/52 6% | 56/2127 3% |
| Head and Neck Carcinoma | 3/85 4% | 41/1574 3% |
| Mesothelioma | 5/62 8% | 1/165 1% |
| Other Sarcomas | 7/69 10% | 13/699 2% |
| Hepatocellular Carcinoma | 6/46 13% | 52/2210 2% |
| Non-Cancerous | 3/104 3% | 17/830 2% |
| B-Cell Non-Hodgkins Lymphoma | 13/88 15% | 42/2534 2% |
Mutation Distribution
Where HSPG2 is mutated · all tissues, split by cell line vs tissue
How many mutations in HSPG2 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 2,291 mutations in HSPG2
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 |
|---|