| Variant ID | 973 |
|---|---|
| Entrez Gene ID | 9448 |
| Gene | MAP4K4 (GeneCards) |
| Location | hg19 2:102448263-102448263
hg38 2:101831801-101831801 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.102448263 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 197 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1915 |
| CADD Raw score (version 1.3) | 5.227966 (Deleterious) |
| FATHMM raw prediction score | 0.9586 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.24 (Deleterious) |
| PROVEAN score | -7.23 (Deleterious) |
| MetaSVM score | 0.895 (Deleterious) |
| MetaLR score | 0.799 (Deleterious) |
| MCAP score | 0.201 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.818 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.624 |
| Deleterious probability by iFish2 | 0.9988 (Deleterious) |
| Deleterious probability by DeFine | 0.9012 (Deleterious) |
| Entrez Gene ID | 9448 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP4K4 (GeneCards) |
| Number of variants in MAP4K4 in this database | 4 (view all the variants) |
| Full name | mitogen-activated protein kinase kinase kinase kinase 4 |
| Band | 2q11.2 |
| Other IDs | Vega: OTTHUMG00000155394 OMIM: 604666 HGNC: HGNC:6866 Ensembl: ENSG00000071054 |
| Other names | HGK, NIK, MEKKK4, FLH21957, HEL-S-31 |
| Summary | The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 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; |