| Variant ID | 29235 |
|---|---|
| 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 | PASM |
| Mutation(HGVS format) | NC_000006.11:g.15374368 G>A (Genome Assembly: GRCh37) |
| 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 | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 7291192 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.4554 |
| CADD Raw score (version 1.3) | 1.466657 (Deleterious) |
| FATHMM raw prediction score | 0.12444 (Tolerated) |
| Deleterious probability by DeFine | 0.813 (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 | 28503910.112 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |