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 | 3,380 | 473 | 2,873 |
| Samples | 1,469 | 255 | 1,197 |
| Peptides | 1,178 | 187 | 1,027 |
Function
ADAMTS12 · ADAM metallopeptidase with thrombospondin type 1 motif 12
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000504830 | P58397 | 1,711 | 1,153 |
| ENST00000352040 | P58397-3 | 1,493 | 1,052 |
| ENST00000515401 | D6REX0* | 174 | 134 |
| ENST00000630537 | A0A0G2JRM9* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 1153 amino-acid changes on canonical ENST00000504830 · 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 ADAMTS12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ADAMTS12 – 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 |
|---|---|---|
| Squamous Cell Lung Carcinoma | 20/57 35% | 92/810 11% |
| Non-Small Cell Lung Carcinoma | 64/304 21% | 149/1390 11% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Melanoma | 16/210 8% | 139/1899 7% |
| Endometrial Carcinoma | 11/42 26% | 36/612 6% |
| Small Cell Lung Carcinoma | 0/9 0% | 51/752 7% |
| Neuroendocrine Tumour | 28/154 18% | 13/577 2% |
| Colorectal Carcinoma | 25/143 17% | 139/3239 4% |
| Other Solid Cancers | 3/94 3% | 72/1515 5% |
| Gastric Carcinoma | 2/74 3% | 83/1809 5% |
| Hodgkins Lymphoma | 0/16 0% | 6/122 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Bladder Carcinoma | 4/58 7% | 33/956 3% |
| Cervical Carcinoma | 0/35 0% | 13/422 3% |
| Esophageal Carcinoma | 0/23 0% | 20/769 3% |
| Head and Neck Carcinoma | 6/85 7% | 32/1574 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 48/2550 2% |
| Non-Cancerous | 1/104 1% | 17/830 2% |
| Glioma | 4/52 8% | 36/2127 2% |
| Other Sarcomas | 3/69 4% | 11/699 2% |
| Hepatocellular Carcinoma | 1/46 2% | 39/2210 2% |
| Thyroid Gland Carcinoma | 5/45 11% | 21/1592 1% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Pancreatic Carcinoma | 4/89 4% | 21/1611 1% |
| Plasma Cell Myeloma | 3/44 7% | 2/305 1% |
Mutation Distribution
Where ADAMTS12 is mutated · all tissues, split by cell line vs tissue
How many mutations in ADAMTS12 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 3,380 mutations in ADAMTS12
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 |
|---|