| Variant ID | 31261 |
|---|---|
| Entrez Gene ID | 64324 |
| Gene | NSD1 (GeneCards) |
| Location | hg19 5:176637019-176637020
hg38 5:177210018-177210019 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000005.9:g.176637019 GG>AA (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 540 |
| Amino acid changes in protein | G > E |
| Position in cDNA | 1619 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.8935 (Deleterious) |
| Entrez Gene ID | 64324 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NSD1 (GeneCards) |
| Number of variants in NSD1 in this database | 27 (view all the variants) |
| Full name | nuclear receptor binding SET domain protein 1 |
| Band | 5q35.3 |
| Other IDs | Vega: OTTHUMG00000130846 OMIM: 606681 HGNC: HGNC:14234 Ensembl: ENSG00000165671 |
| Other names | STO, KMT3B, SOTOS, ARA267, SOTOS1 |
| 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. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 25999502.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |