| Variant ID | 5274 |
|---|---|
| Entrez Gene ID | 29072 |
| Gene | SETD2 (GeneCards) |
| Location | hg19 3:47196084-47196084
hg38 3:47154594-47154594 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.47196084 T>A (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2078 |
| CADD Raw score (version 1.3) | 0.226624 (Deleterious) |
| FATHMM raw prediction score | 0.08231 (Tolerated) |
| Deleterious probability by DeFine | 0.1656 (Neutral) |
| Entrez Gene ID | 29072 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SETD2 (GeneCards) |
| Number of variants in SETD2 in this database | 33 (view all the variants) |
| Full name | SET domain containing 2 |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000133514 OMIM: 612778 HGNC: HGNC:18420 Ensembl: ENSG00000181555 |
| Other names | LLS, HYPB, SET2, HIF-1, HIP-1, KMT3A, HBP231, HSPC069, p231HBP |
| Summary | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |