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 | 281 | 75 | 205 |
| Samples | 114 | 38 | 75 |
| Peptides | 97 | 25 | 73 |
Function
BCL2L1 · BCL2 like 1
The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015].
Isoforms & Proteins
4 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 91 amino-acid changes on canonical ENST00000307677 · 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 BCL2L1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BCL2L1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Endometrial Carcinoma | 0/42 0% | 9/612 1% |
| Melanoma | 5/210 2% | 7/1899 0% |
| Colorectal Carcinoma | 7/143 5% | 12/3239 0% |
| Ovarian Carcinoma | 0/109 0% | 5/998 0% |
| Cervical Carcinoma | 2/35 6% | 0/422 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Gastric Carcinoma | 0/74 0% | 5/1809 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 6/2550 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Breast Carcinoma | 3/144 2% | 5/3264 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 3/1390 0% |
| Hepatocellular Carcinoma | 2/46 4% | 1/2210 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 3/2534 0% |
| Other Blood Cancers | 0/61 0% | 3/2725 0% |
| Kidney Carcinoma | 2/85 2% | 0/1862 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
Mutation Distribution
Where BCL2L1 is mutated · all tissues, split by cell line vs tissue
How many mutations in BCL2L1 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 281 mutations in BCL2L1
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 |
|---|