Overview

Variant ID 10761
Entrez Gene ID 10142
Gene AKAP9 (GeneCards)
Location hg19 7:91680526-91680526
hg38 7:92051212-92051212
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000007.13:g.91680526 C>T (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 159138663

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.0002
EIGEN score 0.0388
CADD Raw score (version 1.3) 0.320614 (Deleterious)
FATHMM raw prediction score 0.14296 (Tolerated)
Deleterious probability by DeFine 0.4482 (Neutral)
Entrez Gene ID 10142 (NCBI Gene)
Official Gene Symbol AKAP9 (GeneCards)
Number of variants in AKAP9 in this database 4 (view all the variants)
Full name A-kinase anchoring protein 9
Band 7q21.2
Other IDs Vega: OTTHUMG00000131127
OMIM: 604001
HGNC: HGNC:379
Ensembl: ENSG00000127914
Other names LQT11, PRKA9, AKAP-9, CG-NAP, YOTIAO, AKAP350, AKAP450, PPP1R45, HYPERION, MU-RMS-40.16A
Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]

Individual #1

Individual ID 29217584.09 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;