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 | 1,952 | 392 | 1,530 |
| Samples | 1,546 | 318 | 1,212 |
| Peptides | 1,327 | 249 | 1,117 |
Function
ASXL3 · ASXL transcriptional regulator 3
This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017].
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 |
|---|---|---|---|
| ENST00000269197 | Q9C0F0 | 1,949 | 1,325 |
| ENST00000696964 | A0A8V8TKV8* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 1325 amino-acid changes on canonical ENST00000269197 · 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 ASXL3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ASXL3 – 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 | 9/40 22% | 0/0 0% |
| Melanoma | 45/210 21% | 280/1899 15% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 52/304 17% | 135/1390 10% |
| Glioblastoma | 10/98 10% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 48/612 8% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Other Solid Cancers | 9/94 10% | 105/1515 7% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 44/810 5% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Gastric Carcinoma | 3/74 4% | 68/1809 4% |
| Bladder Carcinoma | 4/58 7% | 31/956 3% |
| Colorectal Carcinoma | 31/143 22% | 80/3239 2% |
| Esophageal Carcinoma | 0/23 0% | 23/769 3% |
| Hodgkins Lymphoma | 3/16 19% | 1/122 1% |
| Head and Neck Carcinoma | 2/85 2% | 46/1574 3% |
| Ewings Sarcoma | 5/63 8% | 4/262 2% |
| Cervical Carcinoma | 3/35 9% | 9/422 2% |
| Esophageal Squamous Cell Carcinoma | 8/51 16% | 60/2550 2% |
| Adrenocortical Carcinoma | 1/3 33% | 2/112 2% |
| Neuroendocrine Tumour | 16/154 10% | 3/577 1% |
| Other Sarcomas | 9/69 13% | 11/699 2% |
| Biliary Tract Carcinoma | 2/54 4% | 24/950 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Ovarian Carcinoma | 12/109 11% | 15/998 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 18/752 2% |
| Hepatocellular Carcinoma | 4/46 9% | 45/2210 2% |
| Mesothelioma | 4/62 6% | 0/165 0% |
Mutation Distribution
Where ASXL3 is mutated · all tissues, split by cell line vs tissue
How many mutations in ASXL3 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 1,952 mutations in ASXL3
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 |
|---|