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 | 2,754 | 276 | 2,434 |
| Samples | 673 | 106 | 552 |
| Peptides | 557 | 80 | 481 |
Function
L1CAM · L1 cell adhesion molecule
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013].
Isoforms & Proteins
4 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 538 amino-acid changes on canonical ENST00000370060 · 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 L1CAM · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in L1CAM – 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 | 10/40 25% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 32/612 5% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 57/1390 4% |
| Colorectal Carcinoma | 16/143 11% | 85/3239 3% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 23/810 3% |
| Melanoma | 4/210 2% | 52/1899 3% |
| Gastric Carcinoma | 0/74 0% | 50/1809 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Osteosarcoma | 2/45 4% | 3/166 2% |
| Other Solid Cancers | 6/94 6% | 32/1515 2% |
| Neuroendocrine Tumour | 9/154 6% | 7/577 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 15/752 2% |
| Ovarian Carcinoma | 7/109 6% | 14/998 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Plasma Cell Myeloma | 0/44 0% | 5/305 2% |
| Biliary Tract Carcinoma | 2/54 4% | 11/950 1% |
| Bladder Carcinoma | 2/58 3% | 11/956 1% |
| Hepatocellular Carcinoma | 3/46 7% | 24/2210 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Glioma | 1/52 2% | 21/2127 1% |
| Head and Neck Carcinoma | 0/85 0% | 16/1574 1% |
| Other Sarcomas | 0/69 0% | 7/699 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Non-Cancerous | 0/104 0% | 8/830 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 12/1592 1% |
Mutation Distribution
Where L1CAM is mutated · all tissues, split by cell line vs tissue
How many mutations in L1CAM 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 2,754 mutations in L1CAM
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 |
|---|