B4GALT5

Beta-1,4-galactosyltransferase 5 O43286 B4GT5_HUMAN
Protein Coding Chr 20 20q13.13 Swiss-Prot reviewed Entrez 9334
Mutations
199
CL 42 · Tissue 149
Samples
195
CL 41 · Tissue 146
Peptides
144
unique mutant peptides
Transcripts
1
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations19942149
Samples19541146
Peptides14424118

Function

B4GALT5 · Beta-1,4-galactosyltransferase 5

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. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

1 transcript · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000371711 O43286 199 144

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q13.13
Entrez ID
Aliases
B4Gal-T5BETA4-GALT-IVbeta4Gal-T5beta4GalT-Vgt-V

Recurrent Mutations

All 144 amino-acid changes on canonical ENST00000371711 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 B4GALT5 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in B4GALT5 – 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 typeCell linesTissue samples
Endometrial Carcinoma
4/42 10%
9/612 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Non-Small Cell Lung Carcinoma
10/304 3%
10/1390 1%
Colorectal Carcinoma
7/143 5%
30/3239 1%
Gastric Carcinoma
3/74 4%
12/1809 1%
Squamous Cell Lung Carcinoma
1/57 2%
4/810 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
13/2550 1%
Melanoma
0/210 0%
12/1899 1%
Neuroendocrine Tumour
2/154 1%
2/577 0%
Breast Carcinoma
3/144 2%
15/3264 0%
Hepatocellular Carcinoma
0/46 0%
11/2210 0%
Osteosarcoma
1/45 2%
0/166 0%
Other Solid Cancers
0/94 0%
7/1515 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Other Sarcomas
0/69 0%
2/699 0%
Thyroid Gland Carcinoma
2/45 4%
2/1592 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Non-Cancerous
0/104 0%
2/830 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
B-Lymphoblastic Leukemia
3/55 5%
0/2640 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Other Blood Cancers
1/61 2%
1/2725 0%
Glioma
0/52 0%
1/2127 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

Where B4GALT5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in B4GALT5 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 B4GALT5

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide