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 | 626 | 92 | 529 |
| Samples | 535 | 84 | 448 |
| Peptides | 441 | 55 | 398 |
Function
IL1RAPL1 · Interleukin 1 receptor accessory protein like 1
The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017].
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 |
|---|---|---|---|
| ENST00000378993 | Q9NZN1 | 626 | 441 |
Gene Properties
Recurrent Mutations
All 441 amino-acid changes on canonical ENST00000378993 · 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 IL1RAPL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in IL1RAPL1 – 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 | 9/42 21% | 26/612 4% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 33/810 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 46/1390 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 3/210 1% | 47/1899 2% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Other Solid Cancers | 2/94 2% | 31/1515 2% |
| Colorectal Carcinoma | 10/143 7% | 54/3239 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Gastric Carcinoma | 3/74 4% | 27/1809 1% |
| Plasma Cell Myeloma | 3/44 7% | 2/305 1% |
| Neuroendocrine Tumour | 6/154 4% | 4/577 1% |
| Ovarian Carcinoma | 6/109 6% | 9/998 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Esophageal Carcinoma | 2/23 9% | 8/769 1% |
| Head and Neck Carcinoma | 0/85 0% | 20/1574 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Ewings Sarcoma | 2/63 3% | 1/262 0% |
| Other Sarcomas | 3/69 4% | 4/699 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 14/2550 1% |
| Breast Carcinoma | 2/144 1% | 16/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 9/2534 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
Mutation Distribution
Where IL1RAPL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in IL1RAPL1 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 48 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 626 mutations in IL1RAPL1
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 |
|---|