| Variant ID | 810 |
|---|---|
| Entrez Gene ID | 63976 |
| Gene | PRDM16 (GeneCards) |
| Location | hg19 1:3322189-3322189
hg38 1:3405625-3405625 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.3322189 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 388 |
| Amino acid changes in protein | H > P |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8353 |
| CADD Raw score (version 1.3) | 5.019605 (Deleterious) |
| FATHMM raw prediction score | 0.98426 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.985 (Deleterious) |
| PROVEAN score | -9.31 (Deleterious) |
| MetaSVM score | 0.752 (Deleterious) |
| MetaLR score | 0.767 (Deleterious) |
| MCAP score | 0.775 (Deleterious) |
| FitCons score | 0.517 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.177 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.891 |
| Deleterious probability by iFish2 | 0.9998 (Deleterious) |
| Deleterious probability by DeFine | 0.9484 (Deleterious) |
| Entrez Gene ID | 63976 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRDM16 (GeneCards) |
| Number of variants in PRDM16 in this database | 1 (view all the variants) |
| Full name | PR/SET domain 16 |
| Band | 1p36.32 |
| Other IDs | Vega: OTTHUMG00000000581 OMIM: 605557 HGNC: HGNC:14000 Ensembl: ENSG00000142611 |
| Other names | MEL1, KMT8F, LVNC8, PFM13, CMD1LL |
| Summary | The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |