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 | 2,561 | 289 | 2,232 |
| Samples | 1,144 | 176 | 950 |
| Peptides | 1,016 | 132 | 898 |
Function
MED12 · Mediator complex subunit 12
The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000374080 | Q93074 | 1,347 | 947 |
| ENST00000374102 | Q93074-2 | 1,086 | 794 |
| ENST00000692304 | Q93074-3 | 66 | 54 |
| ENST00000333646 | A0A0A0MR79* | 60 | 49 |
| ENST00000690242 | A0A8I5KW86* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 947 amino-acid changes on canonical ENST00000374080 · 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 MED12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MED12 – 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 | 9/40 22% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 75/612 12% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 35/752 5% |
| Non-Small Cell Lung Carcinoma | 26/304 9% | 54/1390 4% |
| Melanoma | 8/210 4% | 80/1899 4% |
| Cervical Carcinoma | 3/35 9% | 15/422 4% |
| Colorectal Carcinoma | 26/143 18% | 97/3239 3% |
| Gastric Carcinoma | 9/74 12% | 54/1809 3% |
| Bladder Carcinoma | 3/58 5% | 30/956 3% |
| Other Solid Cancers | 3/94 3% | 47/1515 3% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 25/810 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Neuroendocrine Tumour | 6/154 4% | 12/577 2% |
| Ovarian Carcinoma | 11/109 10% | 13/998 1% |
| Prostate Carcinoma | 0/13 0% | 46/2105 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| B-Cell Non-Hodgkins Lymphoma | 6/88 7% | 49/2534 2% |
| Non-Cancerous | 0/104 0% | 19/830 2% |
| Thyroid Gland Carcinoma | 2/45 4% | 31/1592 2% |
| Biliary Tract Carcinoma | 1/54 2% | 19/950 2% |
| Other Sarcomas | 0/69 0% | 14/699 2% |
| Breast Carcinoma | 6/144 4% | 55/3264 2% |
| Retinoblastoma | 0/27 0% | 1/30 3% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Glioma | 1/52 2% | 35/2127 2% |
| Head and Neck Carcinoma | 1/85 1% | 25/1574 2% |
Mutation Distribution
Where MED12 is mutated · all tissues, split by cell line vs tissue
How many mutations in MED12 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 2,561 mutations in MED12
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 |
|---|