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 | 4,190 | 587 | 3,553 |
| Samples | 1,814 | 321 | 1,467 |
| Peptides | 1,347 | 236 | 1,179 |
Function
DSCAM · DS cell adhesion molecule
This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000400454 | O60469 | 2,280 | 1,341 |
| ENST00000617870 | A0A087WUI7* | 1,910 | 1,190 |
Gene Properties
Recurrent Mutations
All 1341 amino-acid changes on canonical ENST00000400454 · 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 DSCAM · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DSCAM – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 8/25 32% | 0/0 0% |
| Melanoma | 55/210 26% | 347/1899 18% |
| T-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 60/612 10% |
| Other Solid Cancers | 6/94 6% | 118/1515 8% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Colorectal Carcinoma | 38/143 27% | 198/3239 6% |
| Non-Small Cell Lung Carcinoma | 29/304 10% | 81/1390 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Chordoma | 1/7 14% | 0/13 0% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 37/810 5% |
| Bladder Carcinoma | 9/58 16% | 39/956 4% |
| Hodgkins Lymphoma | 4/16 25% | 2/122 2% |
| Gastric Carcinoma | 2/74 3% | 79/1809 4% |
| Neuroendocrine Tumour | 17/154 11% | 13/577 2% |
| Cervical Carcinoma | 6/35 17% | 12/422 3% |
| Ovarian Carcinoma | 16/109 15% | 20/998 2% |
| Germ Cell Tumour | 2/25 8% | 4/169 2% |
| Head and Neck Carcinoma | 6/85 7% | 45/1574 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Hepatocellular Carcinoma | 5/46 11% | 62/2210 3% |
| Esophageal Carcinoma | 2/23 9% | 21/769 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 22/752 3% |
| Non-Cancerous | 2/104 2% | 23/830 3% |
| Other Sarcomas | 8/69 12% | 11/699 2% |
| Ewings Sarcoma | 4/63 6% | 4/262 2% |
| Biliary Tract Carcinoma | 3/54 6% | 21/950 2% |
| Burkitts Lymphoma | 3/32 9% | 2/196 1% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 47/2550 2% |
Mutation Distribution
Where DSCAM is mutated · all tissues, split by cell line vs tissue
How many mutations in DSCAM 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 52 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 4,190 mutations in DSCAM
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 |
|---|