ACSM1

Acyl-CoA synthetase medium chain family member 1 Q08AH1 ACSM1_HUMAN
Protein Coding Chr 16 16p12.3 Swiss-Prot reviewed Entrez 116285
Mutations
938
CL 134 · Tissue 790
Samples
462
CL 93 · Tissue 361
Peptides
320
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
Mutations938134790
Samples46293361
Peptides32050282

Function

ACSM1 · Acyl-CoA synthetase medium chain family member 1

Enables CoA-ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000520010 Q08AH1 500 320
ENST00000307493 Q08AH1 438 304

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16p12.3
Entrez ID
Aliases
BUCS1MACS1

Recurrent Mutations

All 320 amino-acid changes on canonical ENST00000520010 · 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 ACSM1 · 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 ACSM1 – 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
3/40 8%
0/0 0%
Melanoma
18/210 9%
117/1899 6%
Endometrial Carcinoma
8/42 19%
19/612 3%
Squamous Cell Lung Carcinoma
6/57 11%
18/810 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Non-Small Cell Lung Carcinoma
13/304 4%
19/1390 1%
Gastric Carcinoma
7/74 9%
21/1809 1%
Colorectal Carcinoma
6/143 4%
36/3239 1%
Other Solid Cancers
3/94 3%
17/1515 1%
Ewings Sarcoma
3/63 5%
1/262 0%
Small Cell Lung Carcinoma
0/9 0%
9/752 1%
Glioblastoma
1/98 1%
0/0 0%
Head and Neck Carcinoma
3/85 4%
10/1574 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Neuroendocrine Tumour
2/154 1%
3/577 1%
Other Sarcomas
2/69 3%
3/699 0%
Glioma
0/52 0%
13/2127 1%
Ovarian Carcinoma
3/109 3%
3/998 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Neuroblastoma
0/87 0%
7/1331 1%
Hepatocellular Carcinoma
0/46 0%
11/2210 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Non-Cancerous
1/104 1%
3/830 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
9/2550 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Esophageal Carcinoma
1/23 4%
2/769 0%
Breast Carcinoma
2/144 1%
10/3264 0%
Pancreatic Carcinoma
2/89 2%
3/1611 0%

Mutation Distribution

Where ACSM1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ACSM1 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 53 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 938 mutations in ACSM1

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