| Variant ID | 15176 |
|---|---|
| Entrez Gene ID | 8690 |
| Gene | JRKL (GeneCards) |
| Location | hg19 11:96171017-96171017
hg38 11:96437853-96437853 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.96171017 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | -0.3122 |
| CADD Raw score (version 1.3) | -0.236905 (Deleterious) |
| FATHMM raw prediction score | 0.07096 (Tolerated) |
| Deleterious probability by DeFine | 0.2011 (Neutral) |
| 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 | 29217584.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |