| Variant ID | 8614 |
|---|---|
| Entrez Gene ID | 64324 |
| Gene | NSD1 (GeneCards) |
| Location | hg19 5:176636872-176636872
hg38 5:177209871-177209871 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.176636872 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006457 |
|---|---|
| EIGEN score | -0.2373 |
| CADD Raw score (version 1.3) | 1.811574 (Deleterious) |
| FATHMM raw prediction score | 0.69754 (Tolerated) |
| SIFT score | 0.318 (Tolerated) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 0.755 (Tolerated) |
| MutatioinAssessor score | 0.255 (Tolerated) |
| PROVEAN score | -0.69 (Tolerated) |
| MetaSVM score | -0.47 (Tolerated) |
| MetaLR score | 0.5 (Tolerated) |
| MCAP score | 0.063 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.3 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.395 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.047 |
| Deleterious probability by iFish2 | 0.2628 (Neutral) |
| Deleterious probability by DeFine | 0.9085 (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 | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |