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 | 788 | 69 | 702 |
| Samples | 160 | 23 | 133 |
| Peptides | 122 | 17 | 102 |
Function
B3GALNT1 · Beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017].
Isoforms & Proteins
6 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 120 amino-acid changes on canonical ENST00000320474 · 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 B3GALNT1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in B3GALNT1 – 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 |
|---|---|---|
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Endometrial Carcinoma | 4/42 10% | 11/612 2% |
| Melanoma | 4/210 2% | 34/1899 2% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Colorectal Carcinoma | 5/143 4% | 21/3239 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Prostate Carcinoma | 2/13 15% | 7/2105 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 2/1390 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 5/2550 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Pancreatic Carcinoma | 1/89 1% | 1/1611 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
Mutation Distribution
Where B3GALNT1 is mutated · all tissues, split by cell line vs tissue
How many mutations in B3GALNT1 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 788 mutations in B3GALNT1
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 |
|---|