| Variant ID | 10041 |
|---|---|
| Entrez Gene ID | 2822 |
| Gene | GPLD1 (GeneCards) |
| Location | hg19 6:24448108-24448108
hg38 6:24447880-24447880 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.24448108 T>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | 0.0289 |
| CADD Raw score (version 1.3) | 9.530168 (Deleterious) |
| FATHMM raw prediction score | 0.91027 (Tolerated) |
| LRT score | 0.032 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.887 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.133 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.068 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.625 |
| Deleterious probability by DeFine | 0.8444 (Deleterious) |
| Entrez Gene ID | 2822 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPLD1 (GeneCards) |
| Number of variants in GPLD1 in this database | 1 (view all the variants) |
| Full name | glycosylphosphatidylinositol specific phospholipase D1 |
| Band | 6p22.3 |
| Other IDs | Vega: OTTHUMG00000016104 OMIM: 602515 HGNC: HGNC:4459 Ensembl: ENSG00000112293 |
| Other names | PLD, GPIPLD, PIGPLD, GPIPLDM, PIGPLD1 |
| Summary | Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |