| Variant ID | 31248 |
|---|---|
| Entrez Gene ID | 29072 |
| Gene | SETD2 (GeneCards) |
| Location | hg19 3:47163401-47163401
hg38 3:47121911-47121911 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000003.11:g.47163401 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 909 |
| Amino acid changes in protein | D > N |
| Position in cDNA | 2725 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0606 |
| CADD Raw score (version 1.3) | 5.324989 (Deleterious) |
| FATHMM raw prediction score | 0.92697 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.006 (Tolerated) |
| MutationTaster score | 0.801 (Tolerated) |
| MutatioinAssessor score | 0.975 (Tolerated) |
| PROVEAN score | -1 (Tolerated) |
| MetaSVM score | -0.137 (Tolerated) |
| MetaLR score | 0.523 (Deleterious) |
| MCAP score | 0.062 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.283 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.614 |
| Deleterious probability by iFish2 | 0.0921 (Neutral) |
| Deleterious probability by DeFine | 0.9263 (Deleterious) |
| 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 | 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; |