COLGALT1

Collagen beta(1-O)galactosyltransferase 1 Q8NBJ5 GT251_HUMAN
Protein Coding Chr 19 19p13.11 Swiss-Prot reviewed Entrez 79709
Mutations
337
CL 58 · Tissue 268
Samples
320
CL 58 · Tissue 255
Peptides
258
unique mutant peptides
Transcripts
2
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
Mutations33758268
Samples32058255
Peptides25841217

Function

COLGALT1 · Collagen beta(1-O)galactosyltransferase 1

The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015].

Isoforms & Proteins

2 transcripts · 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
ENST00000252599 Q8NBJ5 336 257
ENST00000597147 M0QX72* 1 1

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.11
Entrez ID
Aliases
BSVD3ColGalT 1GLT25D1

Recurrent Mutations

All 257 amino-acid changes on canonical ENST00000252599 · 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 COLGALT1 · 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 COLGALT1 – 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
T-Lymphoblastic Leukemia
7/40 18%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
19/612 3%
Burkitts Lymphoma
5/32 16%
1/196 1%
Melanoma
5/210 2%
35/1899 2%
Gastric Carcinoma
0/74 0%
28/1809 2%
Colorectal Carcinoma
6/143 4%
39/3239 1%
Other Solid Cancers
4/94 4%
17/1515 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
5/304 2%
12/1390 1%
Rhabdomyosarcoma
2/33 6%
0/171 0%
Bladder Carcinoma
1/58 2%
8/956 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Squamous Cell Lung Carcinoma
1/57 2%
6/810 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Non-Cancerous
0/104 0%
5/830 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Glioma
0/52 0%
10/2127 0%
Ovarian Carcinoma
2/109 2%
3/998 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Other Sarcomas
0/69 0%
3/699 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Breast Carcinoma
5/144 3%
7/3264 0%
Prostate Carcinoma
0/13 0%
7/2105 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Kidney Carcinoma
1/85 1%
5/1862 0%
Neuroblastoma
3/87 3%
1/1331 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
5/2534 0%
Medulloblastoma
0/0 0%
1/450 0%

Mutation Distribution

Where COLGALT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in COLGALT1 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 337 mutations in COLGALT1

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