Basic information
- Full name
- nuclear receptor binding SET domain protein 1
- Ensembl
- ENSG00000165671.20
- Summary
- 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]
- Annotation
- Cancer driver (TSG)
Protein product
- ENST00000439151.6 Primary ENSP00000395929.2 (39 phosphosites)
- ENST00000354179.8
- ENST00000347982.8
- ENST00000511258.5
Phosphosites on the primary protein product
Tumor and normal comparison
| Signed p-values | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of NSD1 with phenotypes and mutations
| Signed p-values | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Cis-association
Associations between omics data of NSD1
Trans-association
Associations of the protein abundance of NSD1 and the protein abundance of other genes
| Signed p-values | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.