GALNT1

Polypeptide N-acetylgalactosaminyltransferase 1 Q10472 GALT1_HUMAN
Protein Coding Chr 18 18q12.2 Swiss-Prot reviewed Entrez 2589
Mutations
318
CL 59 · Tissue 252
Samples
256
CL 44 · Tissue 205
Peptides
212
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
Mutations31859252
Samples25644205
Peptides21234179

Function

GALNT1 · Polypeptide N-acetylgalactosaminyltransferase 1

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008].

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
ENST00000269195 Q10472 272 205
ENST00000591081 Q10472-2 46 37

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18q12.2
Entrez ID
Aliases
GALNAC-T1

Recurrent Mutations

All 205 amino-acid changes on canonical ENST00000269195 · 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 GALNT1 · 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 GALNT1 – 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
4/40 10%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Endometrial Carcinoma
0/42 0%
17/612 3%
Glioblastoma
2/98 2%
0/0 0%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Melanoma
2/210 1%
28/1899 1%
Bladder Carcinoma
1/58 2%
10/956 1%
Colorectal Carcinoma
9/143 6%
24/3239 1%
Non-Small Cell Lung Carcinoma
5/304 2%
11/1390 1%
Biliary Tract Carcinoma
0/54 0%
9/950 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Gastric Carcinoma
0/74 0%
15/1809 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Other Solid Cancers
0/94 0%
12/1515 1%
Neuroendocrine Tumour
3/154 2%
2/577 0%
Hepatocellular Carcinoma
0/46 0%
15/2210 1%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Mesothelioma
1/62 2%
0/165 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Glioma
0/52 0%
9/2127 0%
Prostate Carcinoma
3/13 23%
3/2105 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
B-Lymphoblastic Leukemia
5/55 9%
1/2640 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Breast Carcinoma
0/144 0%
7/3264 0%
Wilms Tumour
0/5 0%
1/474 0%
Non-Cancerous
0/104 0%
2/830 0%

Mutation Distribution

Where GALNT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in GALNT1 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 318 mutations in GALNT1

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