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 | 4,404 | 442 | 3,922 |
| Samples | 732 | 127 | 598 |
| Peptides | 505 | 72 | 441 |
Function
NSD2 · Nuclear receptor binding SET domain protein 2
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
9 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 |
|---|---|---|---|
| ENST00000508803 | O96028 | 794 | 488 |
| ENST00000382891 | O96028 | 720 | 469 |
| ENST00000382892 | O96028 | 720 | 469 |
| ENST00000382895 | O96028 | 720 | 469 |
| ENST00000382888 | O96028-2 | 438 | 250 |
| ENST00000398261 | O96028-3 | 255 | 198 |
| ENST00000503128 | O96028-3 | 255 | 198 |
| ENST00000420906 | O96028-5 | 251 | 194 |
| ENST00000514045 | O96028-5 | 251 | 194 |
Gene Properties
Recurrent Mutations
All 488 amino-acid changes on canonical ENST00000508803 · 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 NSD2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NSD2 – 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% |
| Endometrial Carcinoma | 4/42 10% | 28/612 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 13/210 6% | 65/1899 3% |
| Colorectal Carcinoma | 19/143 13% | 87/3239 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastric Carcinoma | 0/74 0% | 52/1809 3% |
| B-Lymphoblastic Leukemia | 9/55 16% | 62/2640 2% |
| Plasma Cell Myeloma | 2/44 5% | 7/305 2% |
| Germ Cell Tumour | 0/25 0% | 5/169 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Cervical Carcinoma | 0/35 0% | 11/422 3% |
| Bladder Carcinoma | 4/58 7% | 18/956 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 8/810 1% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 21/1390 2% |
| Other Solid Cancers | 0/94 0% | 26/1515 2% |
| Esophageal Carcinoma | 2/23 9% | 10/769 1% |
| Head and Neck Carcinoma | 2/85 2% | 23/1574 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Thyroid Gland Carcinoma | 5/45 11% | 18/1592 1% |
| Other Sarcomas | 4/69 6% | 6/699 1% |
| Neuroendocrine Tumour | 6/154 4% | 3/577 1% |
| Ovarian Carcinoma | 3/109 3% | 9/998 1% |
| Kidney Carcinoma | 0/85 0% | 19/1862 1% |
| Hepatocellular Carcinoma | 0/46 0% | 22/2210 1% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 20/2534 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 19/2550 1% |
Mutation Distribution
Where NSD2 is mutated · all tissues, split by cell line vs tissue
How many mutations in NSD2 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 4,404 mutations in NSD2
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 |
|---|