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 | 2,220 | 192 | 1,995 |
| Samples | 313 | 45 | 261 |
| Peptides | 288 | 36 | 247 |
Function
MID1 · Midline 1
The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016].
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 |
|---|---|---|---|
| ENST00000317552 | O15344 | 315 | 245 |
| ENST00000380779 | O15344 | 287 | 231 |
| ENST00000380780 | O15344 | 287 | 231 |
| ENST00000380785 | O15344 | 287 | 231 |
| ENST00000380787 | O15344 | 287 | 231 |
| ENST00000453318 | O15344 | 287 | 231 |
| ENST00000380782 | O15344-2 | 240 | 197 |
| ENST00000616003 | A0A087X255* | 205 | 167 |
| ENST00000219431 | P29372 | 10 | 6 |
| ENST00000356432 | P29372-4 | 9 | 8 |
| ENST00000397817 | P29372-5 | 6 | 6 |
Gene Properties
Recurrent Mutations
All 245 amino-acid changes on canonical ENST00000317552 · 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 MID1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MID1 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 23/612 4% |
| Melanoma | 5/210 2% | 28/1899 1% |
| Colorectal Carcinoma | 5/143 4% | 43/3239 1% |
| Cervical Carcinoma | 2/35 6% | 4/422 1% |
| Gastric Carcinoma | 0/74 0% | 22/1809 1% |
| Neuroendocrine Tumour | 6/154 4% | 1/577 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 13/1390 1% |
| Ovarian Carcinoma | 5/109 5% | 5/998 0% |
| Other Solid Cancers | 1/94 1% | 12/1515 1% |
| Non-Cancerous | 2/104 2% | 5/830 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Breast Carcinoma | 4/144 3% | 15/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 12/2534 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 11/2550 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
Mutation Distribution
Where MID1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MID1 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 2,220 mutations in MID1
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 |
|---|