| Variant ID | 21493 |
|---|---|
| Entrez Gene ID | 57144 |
| Gene | PAK7 (GeneCards) |
| Location | hg19 20:9685405-9685405
hg38 20:9704757-9704757 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.9685405 A>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0196 |
| CADD Raw score (version 1.3) | -0.079305 (Deleterious) |
| FATHMM raw prediction score | 0.16071 (Tolerated) |
| Deleterious probability by DeFine | 0.7064 (Deleterious) |
| Entrez Gene ID | 57144 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PAK7 (GeneCards) |
| Number of variants in PAK5 in this database | 13 (view all the variants) |
| Full name | p21 (RAC1) activated kinase 5 |
| Band | 20p12.2 |
| Other IDs | Vega: OTTHUMG00000031857 OMIM: 608038 HGNC: HGNC:15916 Ensembl: ENSG00000101349 |
| Other names | PAK7 |
| Summary | The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |