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 | 433 | 99 | 325 |
| Samples | 322 | 83 | 233 |
| Peptides | 250 | 51 | 198 |
Function
ADAM17 · ADAM metallopeptidase domain 17
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020].
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 |
|---|---|---|---|
| ENST00000310823 | P78536 | 338 | 244 |
| ENST00000618923 | A0A087WWW3* | 95 | 74 |
Gene Properties
Recurrent Mutations
All 244 amino-acid changes on canonical ENST00000310823 · 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 ADAM17 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ADAM17 – 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% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Chordoma | 2/7 29% | 0/13 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Burkitts Lymphoma | 0/32 0% | 8/196 4% |
| Endometrial Carcinoma | 3/42 7% | 16/612 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 5/422 1% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 14/1390 1% |
| Plasma Cell Myeloma | 3/44 7% | 2/305 1% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 8/810 1% |
| Colorectal Carcinoma | 10/143 7% | 29/3239 1% |
| Melanoma | 9/210 4% | 15/1899 1% |
| Gastric Carcinoma | 6/74 8% | 15/1809 1% |
| Ovarian Carcinoma | 7/109 6% | 5/998 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 19/2550 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Other Solid Cancers | 3/94 3% | 6/1515 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Pancreatic Carcinoma | 1/89 1% | 4/1611 0% |
Mutation Distribution
Where ADAM17 is mutated · all tissues, split by cell line vs tissue
How many mutations in ADAM17 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 433 mutations in ADAM17
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 |
|---|