| Variant ID | 1060 |
|---|---|
| Entrez Gene ID | 8204 |
| Gene | NRIP1 (GeneCards) |
| Location | hg19 21:16339000-16339000
hg38 21:14966679-14966679 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000021.8:g.16339000 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 505 |
| Amino acid changes in protein | L > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7927 |
| CADD Raw score (version 1.3) | 5.051377 (Deleterious) |
| FATHMM raw prediction score | 0.97489 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.67 (Deleterious) |
| PROVEAN score | -6 (Deleterious) |
| MetaSVM score | -0.924 (Tolerated) |
| MetaLR score | 0.151 (Tolerated) |
| MCAP score | 0.056 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.836 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.961 |
| Deleterious probability by iFish2 | 0.8679 (Deleterious) |
| Deleterious probability by DeFine | 0.9257 (Deleterious) |
| Entrez Gene ID | 8204 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NRIP1 (GeneCards) |
| Number of variants in NRIP1 in this database | 9 (view all the variants) |
| Full name | nuclear receptor interacting protein 1 |
| Band | 21q11.2-q21.1 |
| Other IDs | Vega: OTTHUMG00000074323 OMIM: 602490 HGNC: HGNC:8001 Ensembl: ENSG00000180530 |
| Other names | RIP140 |
| Summary | Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [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; |