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 | 56 | 32 | 0 |
| Samples | 38 | 31 | 0 |
| Peptides | 52 | 28 | 0 |
Function
ARSL · Arylsulfatase L
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013].
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 |
|---|---|---|---|
| ENST00000381134 | P51690 | 53 | 49 |
| ENST00000681963 | F5GYY5* | 2 | 2 |
| ENST00000682184 | A0A804HIF5* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 49 amino-acid changes on canonical ENST00000381134 · 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 ARSL · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ARSL – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 1/612 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 1/1390 0% |
| Colorectal Carcinoma | 5/143 4% | 1/3239 0% |
| Melanoma | 2/210 1% | 1/1899 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
| Non-Cancerous | 1/104 1% | 0/830 0% |
| Bladder Carcinoma | 1/58 2% | 0/956 0% |
| Biliary Tract Carcinoma | 1/54 2% | 0/950 0% |
| Breast Carcinoma | 2/144 1% | 1/3264 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Glioma | 1/52 2% | 0/2127 0% |
| Gastric Carcinoma | 0/74 0% | 1/1809 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 0/2534 0% |
Mutation Distribution
Where ARSL is mutated · all tissues, split by cell line vs tissue
How many mutations in ARSL 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 56 mutations in ARSL
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 |
|---|