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 | 2,395 | 346 | 2,013 |
| Samples | 754 | 143 | 601 |
| Peptides | 643 | 107 | 545 |
Function
ASXL1 · ASXL transcriptional regulator 1
This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
Isoforms & Proteins
6 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 |
|---|---|---|---|
| ENST00000375687 | Q8IXJ9 | 835 | 608 |
| ENST00000306058 | Q76L82* | 754 | 576 |
| ENST00000646985 | A0A2R8Y5U1* | 711 | 548 |
| ENST00000375689 | Q5JWS8* | 33 | 26 |
| ENST00000497249 | H0YJC9* | 31 | 24 |
| ENST00000646367 | A0A2R8Y4U3* | 31 | 24 |
Gene Properties
Recurrent Mutations
All 608 amino-acid changes on canonical ENST00000375687 · 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 ASXL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ASXL1 – 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 | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 35/612 6% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 8/133 6% |
| Colorectal Carcinoma | 22/143 15% | 100/3239 3% |
| Non-Small Cell Lung Carcinoma | 31/304 10% | 26/1390 2% |
| Melanoma | 5/210 2% | 62/1899 3% |
| Bladder Carcinoma | 4/58 7% | 28/956 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 24/810 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Other Solid Cancers | 5/94 5% | 35/1515 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Burkitts Lymphoma | 2/32 6% | 3/196 2% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Gastric Carcinoma | 1/74 1% | 36/1809 2% |
| Neuroendocrine Tumour | 8/154 5% | 6/577 1% |
| Esophageal Carcinoma | 0/23 0% | 15/769 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Osteosarcoma | 0/45 0% | 3/166 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Other Sarcomas | 1/69 1% | 9/699 1% |
| Biliary Tract Carcinoma | 3/54 6% | 10/950 1% |
| Ovarian Carcinoma | 5/109 5% | 8/998 1% |
| Head and Neck Carcinoma | 1/85 1% | 17/1574 1% |
| Breast Carcinoma | 4/144 3% | 28/3264 1% |
| Ewings Sarcoma | 2/63 3% | 1/262 0% |
Mutation Distribution
Where ASXL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ASXL1 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 2,395 mutations in ASXL1
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 |
|---|