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 | 291 | 36 | 253 |
| Samples | 156 | 26 | 128 |
| Peptides | 111 | 18 | 94 |
Function
ABRAXAS1 · Abraxas 1, BRCA1 A complex subunit
This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
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 104 amino-acid changes on canonical ENST00000321945 · 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 ABRAXAS1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABRAXAS1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Unknown | 1/10 10% | 0/29 0% |
| Endometrial Carcinoma | 2/42 5% | 14/612 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 13/2550 1% |
| Gastric Carcinoma | 0/74 0% | 10/1809 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 7/1592 0% |
| Colorectal Carcinoma | 2/143 1% | 14/3239 0% |
| Melanoma | 0/210 0% | 9/1899 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Breast Carcinoma | 4/144 3% | 5/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 4/1390 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Other Blood Cancers | 2/61 3% | 2/2725 0% |
| Pancreatic Carcinoma | 2/89 2% | 0/1611 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
Mutation Distribution
Where ABRAXAS1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABRAXAS1 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.
Mutations
All 291 mutations in ABRAXAS1
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 |
|---|