| Variant ID | 29790 |
|---|---|
| Entrez Gene ID | 6885 |
| Gene | MAP3K7 (GeneCards) |
| Location | hg19 6:91226345-91226345
hg38 6:90516626-90516626 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.91226345 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.827 |
| CADD Raw score (version 1.3) | 7.264371 (Deleterious) |
| FATHMM raw prediction score | 0.99321 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.045 (Deleterious) |
| PROVEAN score | -2.27 (Tolerated) |
| MetaSVM score | 0.174 (Deleterious) |
| MetaLR score | 0.59 (Deleterious) |
| MCAP score | 0.075 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.917 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.554 |
| Deleterious probability by iFish2 | 0.868 (Deleterious) |
| Deleterious probability by DeFine | 0.9657 (Deleterious) |
| 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 | 28867142.38 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |