COLGALT2

Collagen beta(1-O)galactosyltransferase 2 Q8IYK4 GT252_HUMAN
Protein Coding Chr 1 1q25.3 Swiss-Prot reviewed Entrez 23127
Mutations
770
CL 118 · Tissue 642
Samples
396
CL 78 · Tissue 312
Peptides
319
unique mutant peptides
Transcripts
3
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
Mutations770118642
Samples39678312
Peptides31957264

Function

COLGALT2 · Collagen beta(1-O)galactosyltransferase 2

Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

3 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
ENST00000361927 Q8IYK4 409 299
ENST00000367520 Q5SXQ3* 220 167
ENST00000367521 Q5SXQ5* 141 108

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q25.3
Entrez ID
Aliases
C1orf17ColGalT 2GLT25D2

Recurrent Mutations

All 298 amino-acid changes on canonical ENST00000361927 · 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 COLGALT2 · 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 COLGALT2 – 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
6/40 15%
0/0 0%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
2/42 5%
20/612 3%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Non-Small Cell Lung Carcinoma
14/304 5%
26/1390 2%
Other Solid Cancers
0/94 0%
33/1515 2%
Colorectal Carcinoma
5/143 4%
46/3239 1%
Melanoma
7/210 3%
24/1899 1%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Squamous Cell Lung Carcinoma
0/57 0%
12/810 1%
Gastric Carcinoma
1/74 1%
21/1809 1%
Chondrosarcoma
1/14 7%
0/75 0%
Cervical Carcinoma
1/35 3%
4/422 1%
Bladder Carcinoma
0/58 0%
11/956 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
20/2550 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Hepatocellular Carcinoma
1/46 2%
16/2210 1%
Head and Neck Carcinoma
3/85 4%
9/1574 1%
Ovarian Carcinoma
3/109 3%
5/998 0%
Esophageal Carcinoma
0/23 0%
5/769 1%
Breast Carcinoma
6/144 4%
14/3264 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Thyroid Gland Carcinoma
3/45 7%
5/1592 0%
Osteosarcoma
1/45 2%
0/166 0%
Mesothelioma
0/62 0%
1/165 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Biliary Tract Carcinoma
1/54 2%
3/950 0%
Other Sarcomas
0/69 0%
3/699 0%
Glioma
0/52 0%
8/2127 0%

Mutation Distribution

Where COLGALT2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in COLGALT2 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 770 mutations in COLGALT2

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