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 | 42 | 27 | 0 |
| Samples | 32 | 24 | 0 |
| Peptides | 41 | 26 | 0 |
Function
BMAL1 · Basic helix-loop-helix ARNT like 1
The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. The protein regulates interferon-stimulated gene expression and is an important factor in viral infection, including COVID-19. [provided by RefSeq, Oct 2021].
Isoforms & Proteins
3 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 26 amino-acid changes on canonical ENST00000403290 · 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 BMAL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BMAL1 – 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 |
|---|---|---|
| Chordoma | 1/7 14% | 0/13 0% |
| Endometrial Carcinoma | 5/42 12% | 1/612 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 1/35 3% | 0/422 0% |
| Colorectal Carcinoma | 5/143 4% | 2/3239 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 1/1390 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 0/1592 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Melanoma | 1/210 0% | 1/1899 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 0/2550 0% |
| Pancreatic Carcinoma | 1/89 1% | 0/1611 0% |
| Breast Carcinoma | 1/144 1% | 1/3264 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
| Gastric Carcinoma | 1/74 1% | 0/1809 0% |
Mutation Distribution
Where BMAL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in BMAL1 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 42 mutations in BMAL1
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 |
|---|