ACSS2

Acyl-CoA synthetase short chain family member 2 Q9NR19 ACSA_HUMAN
Protein Coding Chr 20 20q11.22 Swiss-Prot reviewed Entrez 55902
Mutations
530
CL 96 · Tissue 423
Samples
267
CL 58 · Tissue 202
Peptides
227
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
Mutations53096423
Samples26758202
Peptides22747181

Function

ACSS2 · Acyl-CoA synthetase short chain family member 2

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009].

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
ENST00000360596 Q9NR19 283 214
ENST00000253382 Q9NR19-2 246 197
ENST00000488172 C9J7L5* 1 1

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q11.22
Entrez ID
Aliases
ACAS2ACECSACSACSAAceCS1dJ1161H23.1

Recurrent Mutations

All 214 amino-acid changes on canonical ENST00000360596 · 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 ACSS2 · 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 ACSS2 – 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
2/40 5%
0/0 0%
Glioblastoma
4/98 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
13/612 2%
Melanoma
6/210 3%
34/1899 2%
Colorectal Carcinoma
14/143 10%
32/3239 1%
Gastric Carcinoma
3/74 4%
17/1809 1%
Non-Cancerous
2/104 2%
5/830 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Ovarian Carcinoma
4/109 4%
3/998 0%
Non-Small Cell Lung Carcinoma
1/304 0%
9/1390 1%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Glioma
1/52 2%
11/2127 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Osteosarcoma
1/45 2%
0/166 0%
Other Solid Cancers
0/94 0%
7/1515 0%
Medulloblastoma
0/0 0%
2/450 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Hepatocellular Carcinoma
2/46 4%
7/2210 0%
Other Sarcomas
1/69 1%
2/699 0%
Thyroid Gland Carcinoma
1/45 2%
5/1592 0%
Kidney Carcinoma
1/85 1%
6/1862 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Breast Carcinoma
3/144 2%
6/3264 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Pancreatic Carcinoma
2/89 2%
2/1611 0%

Mutation Distribution

Where ACSS2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ACSS2 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 530 mutations in ACSS2

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