Variant ID | 7256 |
---|---|
Entrez Gene ID | 5602 |
Gene | MAPK10 (GeneCards) |
Location | hg19 4:87336491-87336491
hg38 4:86415338-86415338 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000004.11:g.87336491 C>T (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 | 191154276 |
MAF in gnomAD genome (version 2.0.1) | 0 |
---|---|
EIGEN score | -0.0806 |
CADD Raw score (version 1.3) | 0.257361 (Deleterious) |
FATHMM raw prediction score | 0.10867 (Tolerated) |
Deleterious probability by DeFine | 0.5139 (Deleterious) |
Entrez Gene ID | 5602 (NCBI Gene) |
---|---|
Official Gene Symbol | MAPK10 (GeneCards) |
Number of variants in MAPK10 in this database | 11 (view all the variants) |
Full name | mitogen-activated protein kinase 10 |
Band | 4q21.3 |
Other IDs | Vega: OTTHUMG00000130604 OMIM: 602897 HGNC: HGNC:6872 Ensembl: ENSG00000109339 |
Other names | JNK3, JNK3A, PRKM10, SAPK1b, p493F12, p54bSAPK |
Summary | The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017] |
Individual ID | 29217584.20 (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; |