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 | 3,631 | 556 | 3,061 |
| Samples | 636 | 141 | 491 |
| Peptides | 571 | 105 | 500 |
Function
NCAM1 · Neural cell adhesion molecule 1
This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020].
Isoforms & Proteins
7 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 457 amino-acid changes on canonical ENST00000316851 · 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 NCAM1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NCAM1 – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 23/612 4% |
| Non-Small Cell Lung Carcinoma | 30/304 10% | 49/1390 4% |
| Melanoma | 17/210 8% | 76/1899 4% |
| Colorectal Carcinoma | 15/143 10% | 82/3239 3% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 14/810 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Gastric Carcinoma | 4/74 5% | 30/1809 2% |
| Other Solid Cancers | 0/94 0% | 28/1515 2% |
| Other Sarcomas | 4/69 6% | 9/699 1% |
| Non-Cancerous | 3/104 3% | 10/830 1% |
| Bladder Carcinoma | 0/58 0% | 14/956 1% |
| Hepatocellular Carcinoma | 0/46 0% | 25/2210 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Pancreatic Carcinoma | 7/89 8% | 10/1611 1% |
| Ovarian Carcinoma | 4/109 4% | 7/998 1% |
| Head and Neck Carcinoma | 4/85 5% | 12/1574 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 15/2550 1% |
| B-Cell Non-Hodgkins Lymphoma | 6/88 7% | 10/2534 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Glioma | 4/52 8% | 8/2127 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Neuroblastoma | 4/87 5% | 3/1331 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Breast Carcinoma | 3/144 2% | 13/3264 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Kidney Carcinoma | 0/85 0% | 9/1862 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
Mutation Distribution
Where NCAM1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NCAM1 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 3,631 mutations in NCAM1
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 |
|---|