| Variant ID | 832 |
|---|---|
| Entrez Gene ID | 80824 |
| Gene | DUSP16 (GeneCards) |
| Location | hg19 12:12640121-12640121
hg38 12:12487187-12487187 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.12640121 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 178 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6908 |
| CADD Raw score (version 1.3) | 4.75689 (Deleterious) |
| FATHMM raw prediction score | 0.98751 (Tolerated) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.48 (Tolerated) |
| MetaSVM score | -0.215 (Tolerated) |
| MetaLR score | 0.403 (Tolerated) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.721 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.23 |
| Deleterious probability by iFish2 | 0.9586 (Deleterious) |
| Deleterious probability by DeFine | 0.9241 (Deleterious) |
| Entrez Gene ID | 80824 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DUSP16 (GeneCards) |
| Number of variants in DUSP16 in this database | 1 (view all the variants) |
| Full name | dual specificity phosphatase 16 |
| Band | 12p13.2 |
| Other IDs | OMIM: 607175 HGNC: HGNC:17909 Ensembl: ENSG00000111266 |
| Other names | MKP7, MKP-7 |
| Summary | This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010] |
| 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; |