ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase A0A087X009 A0A087X009_HUMAN*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 | 362 | 46 | 314 |
| Samples | 180 | 44 | 135 |
| Peptides | 132 | 36 | 106 |
Function
ABO · ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000538324 | A0A087X009* | 206 | 128 |
| ENST00000611156 | A0A087X0C2* | 156 | 99 |
Gene Properties
Recurrent Mutations
All 128 amino-acid changes on canonical ENST00000538324 · 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 ABO · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABO – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Unknown | 1/10 10% | 0/29 0% |
| Endometrial Carcinoma | 4/42 10% | 6/612 1% |
| Melanoma | 6/210 3% | 23/1899 1% |
| Colorectal Carcinoma | 5/143 4% | 24/3239 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 11/1390 1% |
| Gastric Carcinoma | 3/74 4% | 9/1809 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Other Solid Cancers | 2/94 2% | 7/1515 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Ovarian Carcinoma | 4/109 4% | 1/998 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Head and Neck Carcinoma | 1/85 1% | 6/1574 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Prostate Carcinoma | 1/13 8% | 6/2105 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 4/1592 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| B-Lymphoblastic Leukemia | 6/55 11% | 1/2640 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
| Cervical Carcinoma | 1/35 3% | 0/422 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Other Blood Cancers | 0/61 0% | 3/2725 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 2/2534 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
Mutation Distribution
Where ABO is mutated · all tissues, split by cell line vs tissue
How many mutations in ABO 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 362 mutations in ABO
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 |
|---|