| Variant ID | 11366 |
|---|---|
| Entrez Gene ID | 10142 |
| Gene | AKAP9 (GeneCards) |
| Location | hg19 7:91632338-91632338
hg38 7:92003024-92003024 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.91632338 C>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8233 |
| CADD Raw score (version 1.3) | 0.378684 (Deleterious) |
| FATHMM raw prediction score | 0.10405 (Tolerated) |
| SIFT score | 0.057 (Tolerated) |
| LRT score | 0.367 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.125 (Deleterious) |
| PROVEAN score | -1.17 (Tolerated) |
| MetaSVM score | -0.971 (Tolerated) |
| MetaLR score | 0.011 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.038 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.387 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.459 |
| Deleterious probability by iFish2 | 0.7504 (Deleterious) |
| Deleterious probability by DeFine | 0.5975 (Deleterious) |
| 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 ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |