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 | 11,057 | 1,134 | 9,827 |
| Samples | 1,096 | 181 | 905 |
| Peptides | 979 | 159 | 859 |
Function
PPFIA2 · PPFI scaffold protein A2
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].
Isoforms & Proteins
11 transcripts · 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 |
|---|---|---|---|
| ENST00000549396 | O75334 | 1,260 | 837 |
| ENST00000548586 | O75334-3 | 1,144 | 803 |
| ENST00000550584 | G3V200* | 1,139 | 800 |
| ENST00000549325 | O75334-2 | 1,130 | 792 |
| ENST00000552948 | O75334-4 | 1,125 | 792 |
| ENST00000333447 | O75334-6 | 1,038 | 727 |
| ENST00000443686 | O75334-6 | 1,038 | 727 |
| ENST00000407050 | O75334-5 | 1,037 | 733 |
| ENST00000550359 | H0YHK3* | 1,031 | 721 |
| ENST00000541570 | O75334-7 | 721 | 500 |
| ENST00000541017 | O75334-8 | 394 | 288 |
Gene Properties
Recurrent Mutations
All 837 amino-acid changes on canonical ENST00000549396 · 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 PPFIA2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PPFIA2 – 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 | 6/40 15% | 0/0 0% |
| Oral Cavity Carcinoma | 8/54 15% | 0/0 0% |
| Melanoma | 13/210 6% | 158/1899 8% |
| Endometrial Carcinoma | 10/42 24% | 43/612 7% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 46/810 6% |
| Other Solid Cancers | 3/94 3% | 72/1515 5% |
| Non-Small Cell Lung Carcinoma | 27/304 9% | 51/1390 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Colorectal Carcinoma | 29/143 20% | 93/3239 3% |
| Gastric Carcinoma | 1/74 1% | 57/1809 3% |
| Hodgkins Lymphoma | 3/16 19% | 1/122 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 69/2550 3% |
| Head and Neck Carcinoma | 0/85 0% | 46/1574 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 21/752 3% |
| Other Sarcomas | 6/69 9% | 12/699 2% |
| Plasma Cell Myeloma | 5/44 11% | 3/305 1% |
| Bladder Carcinoma | 3/58 5% | 18/956 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Ovarian Carcinoma | 3/109 3% | 18/998 2% |
| Esophageal Carcinoma | 0/23 0% | 12/769 2% |
| Neuroendocrine Tumour | 8/154 5% | 3/577 1% |
| Biliary Tract Carcinoma | 0/54 0% | 11/950 1% |
| Prostate Carcinoma | 4/13 31% | 19/2105 1% |
| Breast Carcinoma | 6/144 4% | 30/3264 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Pancreatic Carcinoma | 2/89 2% | 15/1611 1% |
| Hepatocellular Carcinoma | 0/46 0% | 22/2210 1% |
Mutation Distribution
Where PPFIA2 is mutated · all tissues, split by cell line vs tissue
How many mutations in PPFIA2 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 53 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 11,057 mutations in PPFIA2
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 |
|---|