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 | 2,000 | 342 | 1,628 |
| Samples | 1,284 | 253 | 1,013 |
| Peptides | 1,099 | 179 | 944 |
Function
FREM1 · FRAS1 related extracellular matrix 1
The products of this gene play important roles both in embryonic development and as a modulator of the innate immune responses and inflammation. This gene encodes an extracellular matrix protein that is restricted to the dermis. It is secreted and forms complexes with FREM2 and FRAS1 gene products and is required to maintain epidermal adhesion during embryonic development. Pathogenic mutations in this gene have been implicated in Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and congenital diaphragmatic hernia (CDH). A 715 aa isoform of this gene known as TILRR (Toll-like interleukin-receptor regulator) is expressed from an alternate promoter and is involved in controlling the inflammatory process. The encoded protein is a cell surface proteoglycan that is a co-receptor for IL-1 receptor type I (IL1RI). TILRR increases IL1R1 expression levels and regulates receptor function, leading to amplified activation of NF-kappaB and inflammatory responses. [provided by RefSeq, Apr 2026].
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 1087 amino-acid changes on canonical ENST00000380880 · 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 FREM1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FREM1 – 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 | 9/40 22% | 0/0 0% |
| Melanoma | 29/210 14% | 202/1899 11% |
| Endometrial Carcinoma | 13/42 31% | 50/612 8% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 53/1390 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Other Solid Cancers | 4/94 4% | 67/1515 4% |
| Cervical Carcinoma | 1/35 3% | 19/422 4% |
| Colorectal Carcinoma | 27/143 19% | 118/3239 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Neuroendocrine Tumour | 20/154 13% | 7/577 1% |
| Gastric Carcinoma | 6/74 8% | 61/1809 3% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 21/810 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Hepatocellular Carcinoma | 0/46 0% | 62/2210 3% |
| Non-Cancerous | 2/104 2% | 22/830 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Bladder Carcinoma | 2/58 3% | 24/956 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 17/752 2% |
| Ovarian Carcinoma | 12/109 11% | 13/998 1% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Other Sarcomas | 8/69 12% | 9/699 1% |
| Head and Neck Carcinoma | 6/85 7% | 30/1574 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Plasma Cell Myeloma | 5/44 11% | 2/305 1% |
| Esophageal Carcinoma | 1/23 4% | 14/769 2% |
| Biliary Tract Carcinoma | 1/54 2% | 17/950 2% |
| Adrenocortical Carcinoma | 1/3 33% | 1/112 1% |
Mutation Distribution
Where FREM1 is mutated · all tissues, split by cell line vs tissue
How many mutations in FREM1 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 2,000 mutations in FREM1
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 |
|---|