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 | 149 | 36 | 111 |
| Samples | 148 | 36 | 110 |
| Peptides | 112 | 25 | 87 |
Function
B4GALT7 · Beta-1,4-galactosyltransferase 7
This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member 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 which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009].
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 |
|---|---|---|---|
| ENST00000029410 | Q9UBV7 | 149 | 112 |
Gene Properties
Recurrent Mutations
All 112 amino-acid changes on canonical ENST00000029410 · 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 B4GALT7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in B4GALT7 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Unknown | 1/10 10% | 0/29 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Endometrial Carcinoma | 2/42 5% | 7/612 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Colorectal Carcinoma | 3/143 2% | 21/3239 1% |
| Head and Neck Carcinoma | 4/85 5% | 7/1574 0% |
| Cervical Carcinoma | 2/35 6% | 1/422 0% |
| Gastric Carcinoma | 1/74 1% | 10/1809 1% |
| Other Solid Cancers | 2/94 2% | 7/1515 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Melanoma | 4/210 2% | 6/1899 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 8/2550 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 4/1390 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 2/2640 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
Mutation Distribution
Where B4GALT7 is mutated · all tissues, split by cell line vs tissue
How many mutations in B4GALT7 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 149 mutations in B4GALT7
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 |
|---|