Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 384 | 60 | 314 |
| Samples | 149 | 36 | 111 |
| Peptides | 119 | 23 | 93 |
Function
ABHD5 · Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
3 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000644371 | Q8WTS1 | 155 | 107 |
| ENST00000458276 | A0A2U3TZT9* | 115 | 83 |
| ENST00000454293 | C9J1D1* | 114 | 84 |
Gene Properties
Recurrent Mutations
All 107 amino-acid changes on canonical ENST00000644371 · needle height = samples · drag the mini-map to zoom
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 ABHD5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABHD5 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| Endometrial Carcinoma | 3/42 7% | 15/612 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Melanoma | 4/210 2% | 15/1899 1% |
| Colorectal Carcinoma | 3/143 2% | 20/3239 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Other Solid Cancers | 4/94 4% | 5/1515 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Gastric Carcinoma | 2/74 3% | 5/1809 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 2/1390 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Cervical Carcinoma | 1/35 3% | 0/422 0% |
| Kidney Carcinoma | 1/85 1% | 3/1862 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Glioma | 1/52 2% | 2/2127 0% |
| Breast Carcinoma | 2/144 1% | 2/3264 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
Mutation Distribution
Where ABHD5 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABHD5 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
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 384 mutations in ABHD5
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|