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 | 629 | 148 | 473 |
| Samples | 577 | 129 | 441 |
| Peptides | 439 | 90 | 361 |
Function
ADAMTS1 · ADAM metallopeptidase with thrombospondin type 1 motif 1
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000284984 | Q9UHI8 | 629 | 439 |
Gene Properties
Recurrent Mutations
All 439 amino-acid changes on canonical ENST00000284984 · 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 ADAMTS1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ADAMTS1 – 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% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 20/612 3% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 38/1390 3% |
| Gastric Carcinoma | 2/74 3% | 57/1809 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Colorectal Carcinoma | 17/143 12% | 80/3239 2% |
| Neuroendocrine Tumour | 9/154 6% | 6/577 1% |
| Bladder Carcinoma | 3/58 5% | 13/956 1% |
| Cervical Carcinoma | 2/35 6% | 5/422 1% |
| Melanoma | 4/210 2% | 28/1899 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Meningioma | 0/3 0% | 3/252 1% |
| Ovarian Carcinoma | 6/109 6% | 6/998 1% |
| Non-Cancerous | 0/104 0% | 10/830 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 15/1592 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 8/810 1% |
| Other Solid Cancers | 1/94 1% | 15/1515 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 6/88 7% | 15/2534 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Head and Neck Carcinoma | 0/85 0% | 13/1574 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 19/2550 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Kidney Carcinoma | 3/85 4% | 9/1862 0% |
Mutation Distribution
Where ADAMTS1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ADAMTS1 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 629 mutations in ADAMTS1
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 |
|---|