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 | 735 | 156 | 565 |
| Samples | 481 | 116 | 359 |
| Peptides | 396 | 83 | 323 |
Function
GNPTAB · N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010].
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.
Gene Properties
Recurrent Mutations
All 371 amino-acid changes on canonical ENST00000299314 · 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 GNPTAB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GNPTAB – 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% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 36/612 6% |
| Unknown | 1/10 10% | 1/29 3% |
| Chordoma | 1/7 14% | 0/13 0% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Melanoma | 10/210 5% | 33/1899 2% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 22/1390 2% |
| Gastric Carcinoma | 5/74 7% | 29/1809 2% |
| Colorectal Carcinoma | 17/143 12% | 38/3239 1% |
| Bladder Carcinoma | 2/58 3% | 11/956 1% |
| Other Sarcomas | 2/69 3% | 7/699 1% |
| Head and Neck Carcinoma | 3/85 4% | 16/1574 1% |
| Other Solid Cancers | 2/94 2% | 16/1515 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 6/810 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 25/2550 1% |
| Glioma | 2/52 4% | 19/2127 1% |
| Burkitts Lymphoma | 0/32 0% | 2/196 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Hepatocellular Carcinoma | 6/46 13% | 13/2210 1% |
| Kidney Carcinoma | 7/85 8% | 9/1862 0% |
| Ovarian Carcinoma | 5/109 5% | 4/998 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 4/752 1% |
| Non-Cancerous | 1/104 1% | 6/830 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
Mutation Distribution
Where GNPTAB is mutated · all tissues, split by cell line vs tissue
How many mutations in GNPTAB 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 735 mutations in GNPTAB
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 |
|---|