| Variant ID | 29382 |
|---|---|
| Entrez Gene ID | 56924 |
| Gene | PAK6 (GeneCards) |
| Location | hg19 15:40568217-40568217
hg38 15:40276016-40276016 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.40568217 C>T (Genome Assembly: hg19) |
| 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 | 1.0215 |
| CADD Raw score (version 1.3) | 1.712401 (Deleterious) |
| FATHMM raw prediction score | 0.97089 (Tolerated) |
| Deleterious probability by DeFine | 0.8132 (Deleterious) |
| Entrez Gene ID | 56924 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PAK6 (GeneCards) |
| Number of variants in PAK6 in this database | 3 (view all the variants) |
| Full name | p21 (RAC1) activated kinase 6 |
| Band | 15q15.1 |
| Other IDs | Vega: OTTHUMG00000129921 OMIM: 608110 HGNC: HGNC:16061 Ensembl: ENSG00000137843 |
| Other names | PAK5 |
| Summary | This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 28714951.58 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |