| Variant ID | 2716 |
|---|---|
| Entrez Gene ID | 8476 |
| Gene | CDC42BPA (GeneCards) |
| Location | hg19 1:227421420-227421420
hg38 1:227233719-227233719 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.227421420 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1613 |
| CADD Raw score (version 1.3) | 0.245104 (Deleterious) |
| FATHMM raw prediction score | 0.10979 (Tolerated) |
| Deleterious probability by DeFine | 0.0923 (Neutral) |
| Entrez Gene ID | 8476 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDC42BPA (GeneCards) |
| Number of variants in CDC42BPA in this database | 4 (view all the variants) |
| Full name | CDC42 binding protein kinase alpha |
| Band | 1q42.13 |
| Other IDs | Vega: OTTHUMG00000037618 OMIM: 603412 HGNC: HGNC:1737 Ensembl: ENSG00000143776 |
| Other names | MRCK, MRCKA, PK428 |
| Summary | The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [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; |