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 | 827 | 124 | 688 |
| Samples | 305 | 69 | 231 |
| Peptides | 266 | 52 | 229 |
Function
MECP2 · Methyl-CpG binding protein 2
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015].
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 |
|---|---|---|---|
| ENST00000453960 | P51608-2 | 342 | 228 |
| ENST00000303391 | P51608 | 297 | 212 |
| ENST00000407218 | B5MCB4* | 94 | 68 |
| ENST00000628176 | C9JH89* | 91 | 65 |
| ENST00000630151 | A0A0D9SEX1* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 228 amino-acid changes on canonical ENST00000453960 · 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 MECP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MECP2 – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 17/612 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Colorectal Carcinoma | 13/143 9% | 47/3239 1% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 13/1390 1% |
| Gastric Carcinoma | 2/74 3% | 22/1809 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Cervical Carcinoma | 3/35 9% | 2/422 0% |
| Melanoma | 2/210 1% | 20/1899 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Ovarian Carcinoma | 5/109 5% | 5/998 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 6/810 1% |
| Other Solid Cancers | 1/94 1% | 12/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Glioma | 0/52 0% | 10/2127 0% |
| Hepatocellular Carcinoma | 1/46 2% | 9/2210 0% |
| Breast Carcinoma | 4/144 3% | 10/3264 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Head and Neck Carcinoma | 2/85 2% | 4/1574 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Other Blood Cancers | 0/61 0% | 8/2725 0% |
Mutation Distribution
Where MECP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in MECP2 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 827 mutations in MECP2
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 |
|---|