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 | 3,222 | 409 | 2,777 |
| Samples | 1,018 | 190 | 815 |
| Peptides | 757 | 125 | 659 |
Function
ABCB1 · ATP binding cassette subfamily B member 1
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017].
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 743 amino-acid changes on canonical ENST00000622132 · 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 ABCB1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABCB1 – 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 | 2/7 29% | 0/13 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Melanoma | 21/210 10% | 136/1899 7% |
| Endometrial Carcinoma | 5/42 12% | 43/612 7% |
| Non-Small Cell Lung Carcinoma | 32/304 11% | 70/1390 5% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 42/810 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Neuroendocrine Tumour | 18/154 12% | 11/577 2% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Other Solid Cancers | 3/94 3% | 52/1515 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 25/752 3% |
| Gastric Carcinoma | 10/74 14% | 52/1809 3% |
| Colorectal Carcinoma | 25/143 17% | 67/3239 2% |
| Esophageal Carcinoma | 1/23 4% | 20/769 3% |
| Adrenocortical Carcinoma | 3/3 100% | 0/112 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Bladder Carcinoma | 3/58 5% | 20/956 2% |
| Cervical Carcinoma | 2/35 6% | 8/422 2% |
| Head and Neck Carcinoma | 5/85 6% | 27/1574 2% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 40/2550 2% |
| Other Sarcomas | 5/69 7% | 8/699 1% |
| Non-Cancerous | 0/104 0% | 15/830 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Hepatocellular Carcinoma | 2/46 4% | 30/2210 1% |
| Glioma | 1/52 2% | 27/2127 1% |
| Ewings Sarcoma | 4/63 6% | 0/262 0% |
| Ovarian Carcinoma | 5/109 5% | 8/998 1% |
Mutation Distribution
Where ABCB1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABCB1 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 3,222 mutations in ABCB1
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 |
|---|