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 | 1,077 | 165 | 897 |
| Samples | 961 | 153 | 795 |
| Peptides | 583 | 97 | 519 |
Function
GALNT17 · Polypeptide N-acetylgalactosaminyltransferase 17
This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013].
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 |
|---|---|---|---|
| ENST00000333538 | Q6IS24 | 1,077 | 583 |
Gene Properties
Recurrent Mutations
All 583 amino-acid changes on canonical ENST00000333538 · 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 GALNT17 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GALNT17 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 25/210 12% | 138/1899 7% |
| Endometrial Carcinoma | 7/42 17% | 27/612 4% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 44/810 5% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 59/1390 4% |
| Gastric Carcinoma | 3/74 4% | 77/1809 4% |
| Colorectal Carcinoma | 21/143 15% | 111/3239 3% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Small Cell Lung Carcinoma | 3/9 33% | 25/752 3% |
| Pancreatic Carcinoma | 2/89 2% | 48/1611 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Other Solid Cancers | 6/94 6% | 37/1515 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Esophageal Carcinoma | 0/23 0% | 18/769 2% |
| Other Sarcomas | 9/69 13% | 8/699 1% |
| Neuroendocrine Tumour | 7/154 5% | 6/577 1% |
| Cervical Carcinoma | 1/35 3% | 7/422 2% |
| Biliary Tract Carcinoma | 1/54 2% | 14/950 1% |
| Bladder Carcinoma | 1/58 2% | 14/956 1% |
| Glioma | 3/52 6% | 27/2127 1% |
| Hepatocellular Carcinoma | 2/46 4% | 25/2210 1% |
| Non-Cancerous | 1/104 1% | 10/830 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Head and Neck Carcinoma | 6/85 7% | 11/1574 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Ewings Sarcoma | 2/63 3% | 1/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Ovarian Carcinoma | 4/109 4% | 4/998 0% |
Mutation Distribution
Where GALNT17 is mutated · all tissues, split by cell line vs tissue
How many mutations in GALNT17 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.
Mutations
All 1,077 mutations in GALNT17
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 |
|---|