| Variant ID | 29437 |
|---|---|
| Entrez Gene ID | 23162 |
| Gene | MAPK8IP3 (GeneCards) |
| Location | hg19 16:1810500-1810500
hg38 16:1760499-1760499 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.1810500 A>T (Genome Assembly: hg19) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.3582 |
| CADD Raw score (version 1.3) | 0.729745 (Deleterious) |
| FATHMM raw prediction score | 0.23033 (Tolerated) |
| SIFT score | 0.174 (Tolerated) |
| LRT score | 0.624 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -2.44 (Tolerated) |
| MetaSVM score | -0.778 (Tolerated) |
| MetaLR score | 0.295 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -11 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.532 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.064 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.857 |
| Deleterious probability by iFish2 | 0.1005 (Neutral) |
| Deleterious probability by DeFine | 0.863 (Deleterious) |
| Entrez Gene ID | 23162 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAPK8IP3 (GeneCards) |
| Number of variants in MAPK8IP3 in this database | 1 (view all the variants) |
| Full name | mitogen-activated protein kinase 8 interacting protein 3 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000128637 OMIM: 605431 HGNC: HGNC:6884 Ensembl: ENSG00000138834 |
| Other names | syd, JIP3, SYD2, JIP-3, JSAP1 |
| Summary | The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.113 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |