| Variant ID | 1057 |
|---|---|
| Entrez Gene ID | 8760 |
| Gene | CDS2 (GeneCards) |
| Location | hg19 20:5107769-5107769
hg38 20:5127123-5127123 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.5107769 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 11 |
| Amino acid changes in protein | E > K |
| 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 | -0.3063 |
| CADD Raw score (version 1.3) | 3.73612 (Deleterious) |
| FATHMM raw prediction score | 0.47966 (Tolerated) |
| SIFT score | 0.228 (Tolerated) |
| LRT score | 0.008 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.59 (Tolerated) |
| PROVEAN score | -0.55 (Tolerated) |
| MetaSVM score | -1.075 (Tolerated) |
| MetaLR score | 0.063 (Tolerated) |
| MCAP score | 0.419 (Deleterious) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.42 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.963 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.985 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.058 |
| Deleterious probability by iFish2 | 0.214 (Neutral) |
| Deleterious probability by DeFine | 0.9466 (Deleterious) |
| Entrez Gene ID | 8760 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDS2 (GeneCards) |
| Number of variants in CDS2 in this database | 4 (view all the variants) |
| Full name | CDP-diacylglycerol synthase 2 |
| Band | 20p12.3 |
| Other IDs | Vega: OTTHUMG00000031801 OMIM: 603549 HGNC: HGNC:1801 Ensembl: ENSG00000101290 |
| Other names | None |
| Summary | Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |