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 | 1,409 | 237 | 1,138 |
| Samples | 1,200 | 208 | 970 |
| Peptides | 920 | 145 | 791 |
Function
PAPPA · Pappalysin 1
This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017].
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 |
|---|---|---|---|
| ENST00000328252 | Q13219 | 1,409 | 920 |
Gene Properties
Recurrent Mutations
All 920 amino-acid changes on canonical ENST00000328252 · 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 PAPPA · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PAPPA – 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 |
|---|---|---|
| Melanoma | 15/210 7% | 201/1899 11% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 45/612 7% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 36/810 4% |
| Hodgkins Lymphoma | 5/16 31% | 2/122 2% |
| Non-Small Cell Lung Carcinoma | 27/304 9% | 57/1390 4% |
| Gastric Carcinoma | 7/74 9% | 80/1809 4% |
| Colorectal Carcinoma | 29/143 20% | 125/3239 4% |
| Small Cell Lung Carcinoma | 0/9 0% | 33/752 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Other Solid Cancers | 5/94 5% | 49/1515 3% |
| Bladder Carcinoma | 1/58 2% | 28/956 3% |
| Neuroendocrine Tumour | 17/154 11% | 3/577 1% |
| Other Sarcomas | 7/69 10% | 13/699 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Plasma Cell Myeloma | 4/44 9% | 4/305 1% |
| Hepatocellular Carcinoma | 1/46 2% | 41/2210 2% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Ovarian Carcinoma | 3/109 3% | 16/998 2% |
| Biliary Tract Carcinoma | 0/54 0% | 17/950 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Esophageal Carcinoma | 2/23 9% | 10/769 1% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 34/2550 1% |
| Rhabdomyosarcoma | 1/33 3% | 2/171 1% |
| Mesothelioma | 1/62 2% | 2/165 1% |
| Head and Neck Carcinoma | 2/85 2% | 19/1574 1% |
| B-Cell Non-Hodgkins Lymphoma | 7/88 8% | 26/2534 1% |
| Pancreatic Carcinoma | 4/89 4% | 17/1611 1% |
Mutation Distribution
Where PAPPA is mutated · all tissues, split by cell line vs tissue
How many mutations in PAPPA 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 1,409 mutations in PAPPA
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 |
|---|