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 | 23 | 14 | 0 |
| Samples | 20 | 14 | 0 |
| Peptides | 23 | 14 | 0 |
Function
MACROH2A2 · MacroH2A.2 histone
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000373255 | Q9P0M6 | 22 | 22 |
| ENST00000676699 | A0A7I2V412* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 22 amino-acid changes on canonical ENST00000373255 · 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 MACROH2A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MACROH2A2 – 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 | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 1/612 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Cervical Carcinoma | 1/35 3% | 0/422 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Colorectal Carcinoma | 2/143 1% | 2/3239 0% |
| Melanoma | 1/210 0% | 1/1899 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 0/1390 0% |
| Prostate Carcinoma | 1/13 8% | 0/2105 0% |
| Gastric Carcinoma | 0/74 0% | 1/1809 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
Mutation Distribution
Where MACROH2A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in MACROH2A2 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.
Mutations
All 23 mutations in MACROH2A2
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 |
|---|