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 | 1,066 | 149 | 905 |
| Samples | 515 | 93 | 416 |
| Peptides | 412 | 60 | 354 |
Function
PPFIA1 · PPFI scaffold protein A1
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. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 407 amino-acid changes on canonical ENST00000253925 · 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 PPFIA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PPFIA1 – 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% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 28/612 5% |
| Melanoma | 6/210 3% | 59/1899 3% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 21/810 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Germ Cell Tumour | 3/25 12% | 1/169 1% |
| Cervical Carcinoma | 4/35 11% | 5/422 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Colorectal Carcinoma | 10/143 7% | 51/3239 2% |
| Bladder Carcinoma | 3/58 5% | 15/956 2% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 18/1390 1% |
| Other Solid Cancers | 0/94 0% | 24/1515 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Gastric Carcinoma | 4/74 5% | 22/1809 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 30/2550 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Ovarian Carcinoma | 2/109 2% | 9/998 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Other Sarcomas | 0/69 0% | 7/699 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Kidney Carcinoma | 0/85 0% | 17/1862 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Head and Neck Carcinoma | 3/85 4% | 11/1574 1% |
| Neuroendocrine Tumour | 2/154 1% | 4/577 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 11/1592 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Glioma | 0/52 0% | 15/2127 1% |
Mutation Distribution
Where PPFIA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PPFIA1 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 1,066 mutations in PPFIA1
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 |
|---|