| Variant ID | 29886 |
|---|---|
| Entrez Gene ID | 23005 |
| Gene | MAPKBP1 (GeneCards) |
| Location | hg19 15:42116026-42116026
hg38 15:41823828-41823828 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000015.9:g.42116026 G>T (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6368 |
| CADD Raw score (version 1.3) | -0.338856 (Deleterious) |
| FATHMM raw prediction score | 0.57954 (Tolerated) |
| SIFT score | 0.135 (Tolerated) |
| LRT score | 0.446 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.995 (Deleterious) |
| PROVEAN score | -0.98 (Tolerated) |
| MetaSVM score | -1.041 (Tolerated) |
| MetaLR score | 0.074 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.64 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.841 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.973 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.199 |
| Deleterious probability by iFish2 | 0.0027 (Neutral) |
| Deleterious probability by DeFine | 0.9112 (Deleterious) |
| Entrez Gene ID | 23005 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAPKBP1 (GeneCards) |
| Number of variants in MAPKBP1 in this database | 2 (view all the variants) |
| Full name | mitogen-activated protein kinase binding protein 1 |
| Band | 15q15.1 |
| Other IDs | Vega: OTTHUMG00000160227 OMIM: 616786 HGNC: HGNC:29536 Ensembl: ENSG00000137802 |
| Other names | JNKBP1, NPHP20, JNKBP-1 |
| Summary | This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017] |
| Individual ID | 28867142.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |