| Variant ID | 1081 |
|---|---|
| Entrez Gene ID | 23020 |
| Gene | SNRNP200 (GeneCards) |
| Location | hg19 2:96944009-96944009
hg38 2:96278271-96278271 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.96944009 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1859 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8396 |
| CADD Raw score (version 1.3) | 6.153432 (Deleterious) |
| FATHMM raw prediction score | 0.98528 (Tolerated) |
| SIFT score | 0.024 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.275 (Deleterious) |
| PROVEAN score | -7.45 (Deleterious) |
| MetaSVM score | -0.01 (Tolerated) |
| MetaLR score | 0.396 (Tolerated) |
| MCAP score | 0.198 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.24 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.33 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.706 |
| Deleterious probability by iFish2 | 0.97 (Deleterious) |
| Deleterious probability by DeFine | 0.9319 (Deleterious) |
| Entrez Gene ID | 23020 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNRNP200 (GeneCards) |
| Number of variants in SNRNP200 in this database | 2 (view all the variants) |
| Full name | small nuclear ribonucleoprotein U5 subunit 200 |
| Band | 2q11.2 |
| Other IDs | Vega: OTTHUMG00000130455 OMIM: 601664 HGNC: HGNC:30859 Ensembl: ENSG00000144028 |
| Other names | BRR2, RP33, HELIC2, ASCC3L1, U5-200KD |
| Summary | Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010] |
| 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; |