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 | 325 | 58 | 263 |
| Samples | 168 | 34 | 131 |
| Peptides | 146 | 28 | 119 |
Function
ABHD12 · Abhydrolase domain containing 12, lysophospholipase
This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 141 amino-acid changes on canonical ENST00000339157 · 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 ABHD12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABHD12 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 13/612 2% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Melanoma | 2/210 1% | 17/1899 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Colorectal Carcinoma | 6/143 4% | 18/3239 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 7/1592 0% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Gastric Carcinoma | 0/74 0% | 9/1809 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 3/1390 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Breast Carcinoma | 0/144 0% | 7/3264 0% |
| Prostate Carcinoma | 2/13 15% | 2/2105 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
Mutation Distribution
Where ABHD12 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABHD12 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 325 mutations in ABHD12
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 |
|---|