ACADM

Acyl-CoA dehydrogenase medium chain P11310 ACADM_HUMAN
Protein Coding Chr 1 1p31.1 Swiss-Prot reviewed Entrez 34
Mutations
594
CL 98 · Tissue 489
Samples
211
CL 46 · Tissue 161
Peptides
191
unique mutant peptides
Transcripts
5
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
Mutations59498489
Samples21146161
Peptides19135153

Function

ACADM · Acyl-CoA dehydrogenase medium chain

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

5 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
ENST00000370841 P11310 207 149
ENST00000370834 Q5T4U5* 192 148
ENST00000420607 P11310-2 187 142
ENST00000541113 F6YB23* 7 5
ENST00000680964 A0A7P0TB51* 1 1

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p31.1
Entrez ID
Aliases
ACAD1MCADMCADH

Recurrent Mutations

All 149 amino-acid changes on canonical ENST00000370841 · 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 ACADM · 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 ACADM – 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%
Endometrial Carcinoma
0/42 0%
18/612 3%
Glioblastoma
2/98 2%
0/0 0%
Non-Small Cell Lung Carcinoma
9/304 3%
10/1390 1%
Neuroendocrine Tumour
3/154 2%
4/577 1%
Osteosarcoma
1/45 2%
1/166 1%
Colorectal Carcinoma
10/143 7%
22/3239 1%
Small Cell Lung Carcinoma
1/9 11%
4/752 1%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Melanoma
0/210 0%
12/1899 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Glioma
0/52 0%
12/2127 1%
Gastric Carcinoma
2/74 3%
8/1809 0%
Other Solid Cancers
1/94 1%
6/1515 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Non-Cancerous
0/104 0%
4/830 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Meningioma
0/3 0%
1/252 0%
Other Sarcomas
2/69 3%
1/699 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
9/2550 0%
Ovarian Carcinoma
0/109 0%
4/998 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Prostate Carcinoma
0/13 0%
7/2105 0%
Thyroid Gland Carcinoma
1/45 2%
4/1592 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Medulloblastoma
0/0 0%
1/450 0%
Kidney Carcinoma
1/85 1%
3/1862 0%
Bladder Carcinoma
0/58 0%
2/956 0%
Pancreatic Carcinoma
2/89 2%
1/1611 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in ACADM 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 594 mutations in ACADM

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