| Variant ID | 16959 |
|---|---|
| Entrez Gene ID | 114882 |
| Gene | OSBPL8 (GeneCards) |
| Location | hg19 12:76833615-76833615
hg38 12:76439835-76439835 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.76833615 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.102 |
| CADD Raw score (version 1.3) | 0.199278 (Deleterious) |
| FATHMM raw prediction score | 0.21794 (Tolerated) |
| Deleterious probability by DeFine | 0.2177 (Neutral) |
| Entrez Gene ID | 114882 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OSBPL8 (GeneCards) |
| Number of variants in OSBPL8 in this database | 3 (view all the variants) |
| Full name | oxysterol binding protein like 8 |
| Band | 12q21.2 |
| Other IDs | Vega: OTTHUMG00000169876 OMIM: 606736 HGNC: HGNC:16396 Ensembl: ENSG00000091039 |
| Other names | ORP8, MST120, OSBP10, MSTP120 |
| Summary | This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| 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; |