OXSM

3-oxoacyl-ACP synthase, mitochondrial Q9NWU1 OXSM_HUMAN
Protein Coding Chr 3 3p24.2 Swiss-Prot reviewed Entrez 54995
Mutations
390
CL 70 · Tissue 308
Samples
184
CL 39 · Tissue 139
Peptides
163
unique mutant peptides
Transcripts
4
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
Mutations39070308
Samples18439139
Peptides16328136

Function

OXSM · 3-oxoacyl-ACP synthase, mitochondrial

This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009].

Isoforms & Proteins

4 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
ENST00000280701 Q9NWU1 200 152
ENST00000420173 Q9NWU1-2 145 121
ENST00000626005 F8VNS3* 44 35
ENST00000452098 C9J2G3* 1 1

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p24.2
Entrez ID
Aliases
CEM1FASN2DKASIKS

Recurrent Mutations

All 152 amino-acid changes on canonical ENST00000280701 · 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 OXSM · 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 OXSM – 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
Unknown
2/10 20%
0/29 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
13/612 2%
Colorectal Carcinoma
10/143 7%
24/3239 1%
Bladder Carcinoma
0/58 0%
10/956 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Mesothelioma
2/62 3%
0/165 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Non-Small Cell Lung Carcinoma
1/304 0%
11/1390 1%
Melanoma
1/210 0%
12/1899 1%
Squamous Cell Lung Carcinoma
4/57 7%
1/810 0%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Other Solid Cancers
0/94 0%
8/1515 1%
Gastric Carcinoma
0/74 0%
8/1809 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Glioma
0/52 0%
7/2127 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Breast Carcinoma
4/144 3%
4/3264 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Medulloblastoma
0/0 0%
1/450 0%
Non-Cancerous
0/104 0%
2/830 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
2/2550 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Other Sarcomas
0/69 0%
1/699 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in OXSM 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 390 mutations in OXSM

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