| Variant ID | 1397 |
|---|---|
| Entrez Gene ID | 3720 |
| Gene | JARID2 (GeneCards) |
| Location | hg19 6:15374368-15374368
hg38 6:15374137-15374137 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000006.11:g.15374368_15374368 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_004973.3 |
| mRNA length | 6112 |
| Reference length | 171115067 |
| Deleterious probability by DeFine | 0.9651 (Deleterious) |
|---|
| 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 | 28867142.38 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |