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 | 1,544 | 252 | 1,263 |
| Samples | 1,085 | 184 | 884 |
| Peptides | 1,073 | 155 | 935 |
Function
NSD1 · Nuclear receptor binding SET domain protein 1
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018].
Isoforms & Proteins
6 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 |
|---|---|---|---|
| ENST00000439151 | Q96L73 | 1,364 | 995 |
| ENST00000347982 | A0A8I5QJP2* | 68 | 50 |
| ENST00000354179 | A0A8I5QJP2* | 68 | 50 |
| ENST00000687453 | Q96L73-3 | 41 | 34 |
| ENST00000511258 | D6RG26* | 2 | 2 |
| ENST00000508896 | A0A8I5QJP2* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 995 amino-acid changes on canonical ENST00000439151 · 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 NSD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NSD1 – 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% |
| Oral Cavity Carcinoma | 9/54 17% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 61/612 10% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Other Solid Cancers | 6/94 6% | 75/1515 5% |
| Melanoma | 6/210 3% | 98/1899 5% |
| Cervical Carcinoma | 3/35 9% | 19/422 4% |
| Bladder Carcinoma | 3/58 5% | 40/956 4% |
| Colorectal Carcinoma | 31/143 22% | 104/3239 3% |
| Non-Small Cell Lung Carcinoma | 24/304 8% | 43/1390 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 26/810 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 22/752 3% |
| Head and Neck Carcinoma | 2/85 2% | 49/1574 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastric Carcinoma | 2/74 3% | 54/1809 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Plasma Cell Myeloma | 2/44 5% | 5/305 2% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Biliary Tract Carcinoma | 2/54 4% | 16/950 2% |
| Mesothelioma | 1/62 2% | 3/165 2% |
| Other Sarcomas | 4/69 6% | 9/699 1% |
| Esophageal Carcinoma | 0/23 0% | 13/769 2% |
| Breast Carcinoma | 10/144 7% | 42/3264 1% |
| Hepatocellular Carcinoma | 4/46 9% | 30/2210 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 31/2550 1% |
| Burkitts Lymphoma | 1/32 3% | 2/196 1% |
| Neuroendocrine Tumour | 3/154 2% | 6/577 1% |
| Kidney Carcinoma | 9/85 11% | 14/1862 1% |
Mutation Distribution
Where NSD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NSD1 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 1,544 mutations in NSD1
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 |
|---|