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 | 3,777 | 725 | 2,987 |
| Samples | 2,780 | 560 | 2,168 |
| Peptides | 2,599 | 446 | 2,196 |
Function
ABCA13 · ATP binding cassette subfamily A member 13
In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000435803 | Q86UQ4 | 3,777 | 2,599 |
Gene Properties
Recurrent Mutations
All 2500 amino-acid changes on canonical ENST00000435803 · 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 ABCA13 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABCA13 – 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-Lymphoblastic Leukemia | 11/40 28% | 0/0 0% |
| Chronic Myelogenous Leukemia | 6/25 24% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| Endometrial Carcinoma | 19/42 45% | 89/612 15% |
| Melanoma | 42/210 20% | 274/1899 14% |
| Non-Small Cell Lung Carcinoma | 77/304 25% | 156/1390 11% |
| Glioblastoma | 12/98 12% | 0/0 0% |
| Acute Monocytic Leukemia | 1/1 100% | 2/25 8% |
| Other Solid Cancers | 13/94 14% | 158/1515 10% |
| Squamous Cell Lung Carcinoma | 17/57 30% | 70/810 9% |
| Chordoma | 2/7 29% | 0/13 0% |
| Colorectal Carcinoma | 63/143 44% | 266/3239 8% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Gastric Carcinoma | 14/74 19% | 155/1809 9% |
| Hodgkins Lymphoma | 6/16 38% | 6/122 5% |
| Neuroendocrine Tumour | 44/154 29% | 9/577 2% |
| Esophageal Carcinoma | 5/23 22% | 46/769 6% |
| Small Cell Lung Carcinoma | 2/9 22% | 47/752 6% |
| Other Sarcomas | 18/69 26% | 28/699 4% |
| Cervical Carcinoma | 6/35 17% | 21/422 5% |
| Bladder Carcinoma | 9/58 16% | 45/956 5% |
| Hepatocellular Carcinoma | 8/46 17% | 111/2210 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Germ Cell Tumour | 5/25 20% | 5/169 3% |
| Biliary Tract Carcinoma | 5/54 9% | 41/950 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 15/51 29% | 93/2550 4% |
| Head and Neck Carcinoma | 3/85 4% | 63/1574 4% |
| Prostate Carcinoma | 7/13 54% | 76/2105 4% |
| Osteosarcoma | 4/45 9% | 4/166 2% |
Mutation Distribution
Where ABCA13 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABCA13 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 3,777 mutations in ABCA13
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 |
|---|