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 | 1,624 | 231 | 1,376 |
| Samples | 357 | 79 | 273 |
| Peptides | 304 | 56 | 253 |
Function
PPP1R12A · Protein phosphatase 1 regulatory subunit 12A
Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009].
Isoforms & Proteins
5 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 285 amino-acid changes on canonical ENST00000450142 · 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 PPP1R12A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PPP1R12A – 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 | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 24/612 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 11/422 3% |
| Melanoma | 3/210 1% | 40/1899 2% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 15/1390 1% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Colorectal Carcinoma | 15/143 10% | 29/3239 1% |
| Neuroendocrine Tumour | 8/154 5% | 0/577 0% |
| Gastric Carcinoma | 0/74 0% | 18/1809 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Other Solid Cancers | 0/94 0% | 12/1515 1% |
| Ovarian Carcinoma | 1/109 1% | 7/998 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 15/2550 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Head and Neck Carcinoma | 3/85 4% | 7/1574 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Kidney Carcinoma | 2/85 2% | 6/1862 0% |
| Breast Carcinoma | 3/144 2% | 11/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Glioma | 0/52 0% | 8/2127 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
Mutation Distribution
Where PPP1R12A is mutated · all tissues, split by cell line vs tissue
How many mutations in PPP1R12A 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 1,624 mutations in PPP1R12A
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 |
|---|