| Variant ID | 950 |
|---|---|
| Entrez Gene ID | 8570 |
| Gene | KHSRP (GeneCards) |
| Location | hg19 19:6416787-6416787
hg38 19:6416776-6416776 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.6416787 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 430 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4536 |
| CADD Raw score (version 1.3) | 5.209604 (Deleterious) |
| FATHMM raw prediction score | 0.96115 (Tolerated) |
| SIFT score | 0.209 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.79 (Tolerated) |
| PROVEAN score | -2.21 (Tolerated) |
| MetaSVM score | -1.076 (Tolerated) |
| MetaLR score | 0.106 (Tolerated) |
| MCAP score | 0.027 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.104 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.583 |
| Deleterious probability by iFish2 | 0.8723 (Deleterious) |
| Deleterious probability by DeFine | 0.962 (Deleterious) |
| Entrez Gene ID | 8570 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KHSRP (GeneCards) |
| Number of variants in KHSRP in this database | 1 (view all the variants) |
| Full name | KH-type splicing regulatory protein |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000180850 OMIM: 603445 HGNC: HGNC:6316 Ensembl: ENSG00000088247 |
| Other names | FBP2, KSRP, FUBP2 |
| Summary | The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 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; |