| Variant ID | 19196 |
|---|---|
| Entrez Gene ID | 23005 |
| Gene | MAPKBP1 (GeneCards) |
| Location | hg19 15:42096878-42096878
hg38 15:41804680-41804680 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.42096878 G>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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3907 |
| CADD Raw score (version 1.3) | 0.004443 (Deleterious) |
| FATHMM raw prediction score | 0.19705 (Tolerated) |
| Deleterious probability by DeFine | 0.5614 (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 | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |