| Variant ID | 9766 |
|---|---|
| Entrez Gene ID | 3720 |
| Gene | JARID2 (GeneCards) |
| Location | hg19 6:15503394-15503394
hg38 6:15503163-15503163 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.15503394 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1627 |
| CADD Raw score (version 1.3) | 0.141665 (Deleterious) |
| FATHMM raw prediction score | 0.10904 (Tolerated) |
| Deleterious probability by DeFine | 0.4488 (Neutral) |
| Entrez Gene ID | 3720 (NCBI Gene) |
|---|---|
| Official Gene Symbol | JARID2 (GeneCards) |
| Number of variants in JARID2 in this database | 4 (view all the variants) |
| Full name | jumonji and AT-rich interaction domain containing 2 |
| Band | 6p22.3 |
| Other IDs | Vega: OTTHUMG00000014293 OMIM: 601594 HGNC: HGNC:6196 Ensembl: ENSG00000008083 |
| Other names | JMJ |
| Summary | This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012] |
| Individual ID | 29217584.13 (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; |