ACAD9

Acyl-CoA dehydrogenase family member 9 Q9H845 ACAD9_HUMAN
Protein Coding Chr 3 3q21.3 Swiss-Prot reviewed Entrez 28976
Mutations
285
CL 48 · Tissue 229
Samples
271
CL 48 · Tissue 219
Peptides
205
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
Mutations28548229
Samples27148219
Peptides20531174

Function

ACAD9 · Acyl-CoA dehydrogenase family member 9

This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010].

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
ENST00000308982 Q9H845 284 204
ENST00000679613 A0A7P0T871* 1 1

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q21.3
Entrez ID
Aliases
MC1DN20NPD002

Recurrent Mutations

All 204 amino-acid changes on canonical ENST00000308982 · 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 ACAD9 · 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 ACAD9 – 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-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Germ Cell Tumour
0/25 0%
5/169 3%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Endometrial Carcinoma
2/42 5%
13/612 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Melanoma
3/210 1%
27/1899 1%
Colorectal Carcinoma
6/143 4%
29/3239 1%
Non-Small Cell Lung Carcinoma
5/304 2%
12/1390 1%
Gastric Carcinoma
3/74 4%
15/1809 1%
Ewings Sarcoma
3/63 5%
0/262 0%
Squamous Cell Lung Carcinoma
0/57 0%
8/810 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Bladder Carcinoma
1/58 2%
7/956 1%
Other Solid Cancers
1/94 1%
11/1515 1%
Neuroendocrine Tumour
2/154 1%
3/577 1%
Head and Neck Carcinoma
3/85 4%
7/1574 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
14/2550 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Hepatocellular Carcinoma
0/46 0%
11/2210 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Non-Cancerous
1/104 1%
3/830 0%
Other Sarcomas
0/69 0%
3/699 0%
Thyroid Gland Carcinoma
2/45 4%
4/1592 0%
Prostate Carcinoma
0/13 0%
7/2105 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%

Mutation Distribution

Where ACAD9 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ACAD9 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 285 mutations in ACAD9

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