| Variant ID | 10207 |
|---|---|
| Entrez Gene ID | 6885 |
| Gene | MAP3K7 (GeneCards) |
| Location | hg19 6:91702766-91702766
hg38 6:90993048-90993048 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.91702766 C>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0192 |
| CADD Raw score (version 1.3) | 0.185593 (Deleterious) |
| FATHMM raw prediction score | 0.14239 (Tolerated) |
| Deleterious probability by DeFine | 0.3398 (Neutral) |
| Entrez Gene ID | 6885 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP3K7 (GeneCards) |
| Number of variants in MAP3K7 in this database | 10 (view all the variants) |
| Full name | mitogen-activated protein kinase kinase kinase 7 |
| Band | 6q15 |
| Other IDs | Vega: OTTHUMG00000015217 OMIM: 602614 HGNC: HGNC:6859 Ensembl: ENSG00000135341 |
| Other names | CSCF, FMD2, TAK1, MEKK7, TGF1a |
| Summary | The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |