Overview

Variant ID 25727
Entrez Gene ID 5602
Gene MAPK10 (GeneCards)
Location hg19 4:86994725-86994725
hg38 4:86073572-86073572
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000004.11:g.86994725 C>G (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3233
CADD Raw score (version 1.3) -0.036811 (Deleterious)
FATHMM raw prediction score 0.04352 (Tolerated)
Deleterious probability by DeFine 0.0799 (Neutral)
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 #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID