| Variant ID | 2964 |
|---|---|
| Entrez Gene ID | 55704 |
| Gene | CCDC88A (GeneCards) |
| Location | hg19 2:55647308-55647308
hg38 2:55420172-55420172 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.55647308 C>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4054 |
| CADD Raw score (version 1.3) | 0.620762 (Deleterious) |
| FATHMM raw prediction score | 0.51096 (Tolerated) |
| Deleterious probability by DeFine | 0.759 (Deleterious) |
| Entrez Gene ID | 55704 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC88A (GeneCards) |
| Number of variants in CCDC88A in this database | 5 (view all the variants) |
| Full name | coiled-coil domain containing 88A |
| Band | 2p16.1 |
| Other IDs | Vega: OTTHUMG00000151915 OMIM: 609736 HGNC: HGNC:25523 Ensembl: ENSG00000115355 |
| Other names | APE, GIV, GRDN, PEHO, HkRP1, PEHOL, GIRDIN, KIAA1212 |
| Summary | This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |