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 | 740 | 132 | 599 |
| Samples | 646 | 112 | 527 |
| Peptides | 504 | 84 | 435 |
Function
CILP · Cartilage intermediate layer protein
Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010].
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 |
|---|---|---|---|
| ENST00000261883 | O75339 | 740 | 504 |
Gene Properties
Recurrent Mutations
All 504 amino-acid changes on canonical ENST00000261883 · 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 CILP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CILP – 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 | 8/40 20% | 0/0 0% |
| Melanoma | 18/210 9% | 106/1899 6% |
| Endometrial Carcinoma | 6/42 14% | 30/612 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Mesothelioma | 4/62 6% | 3/165 2% |
| Colorectal Carcinoma | 26/143 18% | 70/3239 2% |
| Other Solid Cancers | 2/94 2% | 35/1515 2% |
| Gastric Carcinoma | 3/74 4% | 37/1809 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 17/810 2% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 24/1390 2% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Osteosarcoma | 2/45 4% | 1/166 1% |
| Esophageal Carcinoma | 1/23 4% | 10/769 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Other Sarcomas | 2/69 3% | 8/699 1% |
| Head and Neck Carcinoma | 1/85 1% | 20/1574 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Non-Cancerous | 2/104 2% | 7/830 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Prostate Carcinoma | 4/13 31% | 14/2105 1% |
| Hepatocellular Carcinoma | 1/46 2% | 18/2210 1% |
| Ovarian Carcinoma | 3/109 3% | 6/998 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Kidney Carcinoma | 0/85 0% | 13/1862 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 9/1592 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 15/2550 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 11/2534 0% |
Mutation Distribution
Where CILP is mutated · all tissues, split by cell line vs tissue
How many mutations in CILP 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 740 mutations in CILP
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 |
|---|