| Variant ID | 1098 |
|---|---|
| Entrez Gene ID | 81491 |
| Gene | GPR63 (GeneCards) |
| Location | hg19 6:97246361-97246361
hg38 6:96798485-96798485 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.97246361 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 416 |
| Amino acid changes in protein | R > Q |
| 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 |
|---|---|
| EIGEN score | 0.0572 |
| CADD Raw score (version 1.3) | 3.023516 (Deleterious) |
| FATHMM raw prediction score | 0.97754 (Tolerated) |
| SIFT score | 0.709 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | -0.185 (Tolerated) |
| PROVEAN score | 0.1 (Tolerated) |
| MetaSVM score | -0.975 (Tolerated) |
| MetaLR score | 0.043 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.503 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.421 |
| Deleterious probability by iFish2 | 0.5291 (Deleterious) |
| Deleterious probability by DeFine | 0.9604 (Deleterious) |
| Entrez Gene ID | 81491 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPR63 (GeneCards) |
| Number of variants in GPR63 in this database | 4 (view all the variants) |
| Full name | G protein-coupled receptor 63 |
| Band | 6q16.1 |
| Other IDs | Vega: OTTHUMG00000015245 OMIM: 606915 HGNC: HGNC:13302 Ensembl: ENSG00000112218 |
| Other names | PSP24B, PSP24(beta) |
| Summary | This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] |
| 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; |