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 | 199 | 53 | 144 |
| Samples | 138 | 42 | 94 |
| Peptides | 110 | 28 | 83 |
Function
B4GALT1 · Beta-1,4-galactosyltransferase 1
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008].
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.
Gene Properties
Recurrent Mutations
All 110 amino-acid changes on canonical ENST00000379731 · 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 B4GALT1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in B4GALT1 – 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 | 2/40 5% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 8/612 1% |
| Neuroendocrine Tumour | 8/154 5% | 1/577 0% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 2/810 0% |
| Colorectal Carcinoma | 8/143 6% | 16/3239 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Melanoma | 3/210 1% | 8/1899 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 3/1592 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 2/1390 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Other Solid Cancers | 1/94 1% | 2/1515 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Breast Carcinoma | 0/144 0% | 6/3264 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 2/2550 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 2/2534 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Other Blood Cancers | 1/61 2% | 1/2725 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
Mutation Distribution
Where B4GALT1 is mutated · all tissues, split by cell line vs tissue
How many mutations in B4GALT1 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 199 mutations in B4GALT1
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 |
|---|