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 | 2,978 | 521 | 2,441 |
| Samples | 939 | 229 | 704 |
| Peptides | 798 | 167 | 656 |
Function
ABCA8 · ATP binding cassette subfamily A member 8
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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000586539 | O94911 | 1,082 | 769 |
| ENST00000269080 | O94911-1 | 949 | 714 |
| ENST00000430352 | A0A0A0MSU4* | 947 | 715 |
Gene Properties
Recurrent Mutations
All 769 amino-acid changes on canonical ENST00000586539 · 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 ABCA8 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABCA8 – 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 |
|---|---|---|
| T-Cell Non-Hodgkins Lymphoma | 6/26 23% | 0/0 0% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 22/210 10% | 118/1899 6% |
| Endometrial Carcinoma | 5/42 12% | 37/612 6% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Colorectal Carcinoma | 17/143 12% | 114/3239 4% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 24/810 3% |
| Other Solid Cancers | 1/94 1% | 56/1515 4% |
| Non-Small Cell Lung Carcinoma | 27/304 9% | 31/1390 2% |
| Osteosarcoma | 3/45 7% | 4/166 2% |
| Gastric Carcinoma | 9/74 12% | 53/1809 3% |
| Mesothelioma | 4/62 6% | 3/165 2% |
| Germ Cell Tumour | 4/25 16% | 1/169 1% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Neuroendocrine Tumour | 13/154 8% | 5/577 1% |
| Cervical Carcinoma | 3/35 9% | 7/422 2% |
| Esophageal Carcinoma | 4/23 17% | 11/769 1% |
| Bladder Carcinoma | 0/58 0% | 19/956 2% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Esophageal Squamous Cell Carcinoma | 12/51 24% | 30/2550 1% |
| Breast Carcinoma | 18/144 12% | 34/3264 1% |
| Ovarian Carcinoma | 7/109 6% | 9/998 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Other Sarcomas | 4/69 6% | 6/699 1% |
| Non-Cancerous | 5/104 5% | 7/830 1% |
| Ewings Sarcoma | 2/63 3% | 2/262 1% |
| Head and Neck Carcinoma | 6/85 7% | 14/1574 1% |
| Biliary Tract Carcinoma | 3/54 6% | 9/950 1% |
Mutation Distribution
Where ABCA8 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABCA8 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 2,978 mutations in ABCA8
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 |
|---|