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 | 2,257 | 290 | 1,919 |
| Samples | 279 | 64 | 207 |
| Peptides | 256 | 48 | 210 |
Function
BIN1 · Bridging integrator 1
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016].
Isoforms & Proteins
11 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 |
|---|---|---|---|
| ENST00000316724 | O00499 | 272 | 201 |
| ENST00000357970 | O00499-5 | 221 | 168 |
| ENST00000351659 | O00499-3 | 211 | 160 |
| ENST00000346226 | O00499-2 | 208 | 159 |
| ENST00000259238 | O00499-11 | 207 | 159 |
| ENST00000393041 | O00499-4 | 202 | 153 |
| ENST00000352848 | O00499-8 | 200 | 152 |
| ENST00000376113 | O00499-10 | 192 | 147 |
| ENST00000393040 | O00499-6 | 189 | 147 |
| ENST00000409400 | O00499-7 | 182 | 141 |
| ENST00000348750 | O00499-9 | 173 | 135 |
Gene Properties
Recurrent Mutations
All 201 amino-acid changes on canonical ENST00000316724 · 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 BIN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BIN1 – 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 | 0/7 0% | 1/13 8% |
| Endometrial Carcinoma | 3/42 7% | 16/612 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 11/210 5% | 28/1899 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 12/1390 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 1/58 2% | 9/956 1% |
| Colorectal Carcinoma | 9/143 6% | 24/3239 1% |
| Gastric Carcinoma | 2/74 3% | 15/1809 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Glioma | 0/52 0% | 17/2127 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Ovarian Carcinoma | 4/109 4% | 4/998 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 8/1592 0% |
| Kidney Carcinoma | 3/85 4% | 7/1862 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Pancreatic Carcinoma | 2/89 2% | 6/1611 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| B-Cell Non-Hodgkins Lymphoma | 6/88 7% | 5/2534 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Biliary Tract Carcinoma | 1/54 2% | 2/950 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
Mutation Distribution
Where BIN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in BIN1 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 2,257 mutations in BIN1
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 |
|---|