DGAT1

Diacylglycerol O-acyltransferase 1 O75907 DGAT1_HUMAN
Protein Coding Chr 8 8q24.3 Swiss-Prot reviewed Entrez 8694
Mutations
297
CL 58 · Tissue 232
Samples
211
CL 51 · Tissue 156
Peptides
195
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
Mutations29758232
Samples21151156
Peptides19546154

Function

DGAT1 · Diacylglycerol O-acyltransferase 1

This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013].

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
ENST00000528718 O75907 202 160
ENST00000332324 A0A0A0MR74* 95 76

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q24.3
Entrez ID
Aliases
ARATARGP1DGATDIAR7

Recurrent Mutations

All 160 amino-acid changes on canonical ENST00000528718 · 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 DGAT1 · 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 DGAT1 – 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
Chronic Myelogenous Leukemia
4/25 16%
0/0 0%
T-Lymphoblastic Leukemia
4/40 10%
0/0 0%
Endometrial Carcinoma
3/42 7%
15/612 2%
Colorectal Carcinoma
8/143 6%
30/3239 1%
Glioblastoma
1/98 1%
0/0 0%
Melanoma
0/210 0%
20/1899 1%
Gastric Carcinoma
1/74 1%
13/1809 1%
Bladder Carcinoma
1/58 2%
6/956 1%
Hepatocellular Carcinoma
3/46 7%
12/2210 1%
Non-Small Cell Lung Carcinoma
6/304 2%
4/1390 0%
Squamous Cell Lung Carcinoma
2/57 4%
3/810 0%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Glioma
0/52 0%
12/2127 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Osteosarcoma
1/45 2%
0/166 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Other Solid Cancers
0/94 0%
7/1515 0%
Head and Neck Carcinoma
3/85 4%
4/1574 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Non-Cancerous
1/104 1%
2/830 0%
Breast Carcinoma
4/144 3%
7/3264 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Medulloblastoma
0/0 0%
1/450 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Neuroblastoma
1/87 1%
1/1331 0%
Esophageal Carcinoma
0/23 0%
1/769 0%

Mutation Distribution

Where DGAT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DGAT1 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 297 mutations in DGAT1

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