| Variant ID | 1000 |
|---|---|
| Entrez Gene ID | 5601 |
| Gene | MAPK9 (GeneCards) |
| Location | hg19 5:179668048-179668048
hg38 5:180241048-180241048 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.179668048 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 327 |
| Amino acid changes in protein | P > S |
| 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 |
|---|---|
| EIGEN score | -0.0492 |
| CADD Raw score (version 1.3) | 2.484258 (Deleterious) |
| FATHMM raw prediction score | 0.9828 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.905 (Tolerated) |
| PROVEAN score | -3.11 (Deleterious) |
| MetaSVM score | 0.05 (Deleterious) |
| MetaLR score | 0.576 (Deleterious) |
| MCAP score | 0.144 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.39 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.839 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.49 |
| Deleterious probability by iFish2 | 0.6795 (Deleterious) |
| Deleterious probability by DeFine | 0.9315 (Deleterious) |
| Entrez Gene ID | 5601 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAPK9 (GeneCards) |
| Number of variants in MAPK9 in this database | 3 (view all the variants) |
| Full name | mitogen-activated protein kinase 9 |
| Band | 5q35.3 |
| Other IDs | Vega: OTTHUMG00000130934 OMIM: 602896 HGNC: HGNC:6886 Ensembl: ENSG00000050748 |
| Other names | JNK2, SAPK, p54a, JNK2A, JNK2B, PRKM9, JNK-55, SAPK1a, JNK2BETA, p54aSAPK, JNK2ALPHA |
| Summary | The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008] |
| Individual ID | 27788131.02 (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; |