| Variant ID | 1039 |
|---|---|
| Entrez Gene ID | 114881 |
| Gene | OSBPL7 (GeneCards) |
| Location | hg19 17:45886504-45886504
hg38 17:47809138-47809138 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.45886504 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 703 |
| Amino acid changes in protein | G > E |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9795 |
| CADD Raw score (version 1.3) | 6.924825 (Deleterious) |
| FATHMM raw prediction score | 0.98217 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.245 (Deleterious) |
| PROVEAN score | -7.14 (Deleterious) |
| MetaSVM score | 1.02 (Deleterious) |
| MetaLR score | 0.871 (Deleterious) |
| MCAP score | 0.549 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.9 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.074 |
| Deleterious probability by iFish2 | 0.9986 (Deleterious) |
| Deleterious probability by DeFine | 0.9754 (Deleterious) |
| Entrez Gene ID | 114881 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OSBPL7 (GeneCards) |
| Number of variants in OSBPL7 in this database | 2 (view all the variants) |
| Full name | oxysterol binding protein like 7 |
| Band | 17q21.32 |
| Other IDs | Vega: OTTHUMG00000178288 OMIM: 606735 HGNC: HGNC:16387 Ensembl: ENSG00000006025 |
| Other names | ORP7 |
| Summary | This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [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; |