| Variant ID | 1017 |
|---|---|
| Entrez Gene ID | 8690 |
| Gene | JRKL (GeneCards) |
| Location | hg19 11:96124354-96124354
hg38 11:96391190-96391190 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.96124354 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 181 |
| Amino acid changes in protein | L > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1398 |
| CADD Raw score (version 1.3) | 4.301854 (Deleterious) |
| FATHMM raw prediction score | 0.3125 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.006 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.42 (Deleterious) |
| PROVEAN score | -3.76 (Deleterious) |
| MetaSVM score | -0.894 (Tolerated) |
| MetaLR score | 0.226 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.437 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.864 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.378 |
| Deleterious probability by iFish2 | 0.3734 (Neutral) |
| Deleterious probability by DeFine | 0.8507 (Deleterious) |
| Entrez Gene ID | 8690 (NCBI Gene) |
|---|---|
| Official Gene Symbol | JRKL (GeneCards) |
| Number of variants in JRKL in this database | 2 (view all the variants) |
| Full name | JRK like |
| Band | 11q21 |
| Other IDs | Vega: OTTHUMG00000154950 OMIM: 603211 HGNC: HGNC:6200 Ensembl: ENSG00000183340 |
| Other names | HHMJG |
| Summary | The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] |
| 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; |