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 | 891 | 56 | 830 |
| Samples | 206 | 22 | 183 |
| Peptides | 166 | 18 | 146 |
Function
BABAM2 · BRISC and BRCA1 A complex member 2
This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016].
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 128 amino-acid changes on canonical ENST00000379624 · 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 BABAM2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BABAM2 – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 13/612 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Melanoma | 1/210 0% | 23/1899 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Colorectal Carcinoma | 4/143 3% | 32/3239 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 9/1390 1% |
| Other Solid Cancers | 0/94 0% | 10/1515 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Gastric Carcinoma | 0/74 0% | 10/1809 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Wilms Tumour | 0/5 0% | 2/474 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Breast Carcinoma | 3/144 2% | 10/3264 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 7/2534 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
Mutation Distribution
Where BABAM2 is mutated · all tissues, split by cell line vs tissue
How many mutations in BABAM2 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 891 mutations in BABAM2
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 |
|---|