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 | 185 | 47 | 132 |
| Samples | 177 | 46 | 130 |
| Peptides | 151 | 35 | 119 |
Function
ABHD14A-ACY1 · ABHD14A-ACY1 readthrough
This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is distinct due to the use of an alternate start codon relative to the upstream gene. [provided by RefSeq, Oct 2015].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000463937 | C9JMV9* | 185 | 151 |
Gene Properties
Recurrent Mutations
All 151 amino-acid changes on canonical ENST00000463937 · 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 ABHD14A-ACY1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABHD14A-ACY1 – 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% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 12/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Burkitts Lymphoma | 0/32 0% | 2/196 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Melanoma | 4/210 2% | 14/1899 1% |
| Colorectal Carcinoma | 5/143 4% | 21/3239 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 6/1390 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Ovarian Carcinoma | 3/109 3% | 2/998 0% |
| Gastric Carcinoma | 2/74 3% | 6/1809 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Prostate Carcinoma | 2/13 15% | 6/2105 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 3/1592 0% |
| Breast Carcinoma | 3/144 2% | 4/3264 0% |
| Neuroblastoma | 1/87 1% | 2/1331 0% |
Mutation Distribution
Where ABHD14A-ACY1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABHD14A-ACY1 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.
Mutations
All 185 mutations in ABHD14A-ACY1
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 |
|---|