| Variant ID | 1403 |
|---|---|
| Entrez Gene ID | 5927 |
| Gene | KDM5A (GeneCards) |
| Location | hg19 12:404827-404827
hg38 12:295661-295661 |
| Disease | Asymptomatic |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000012.11:g.404827_404827 del (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 | NM_001042603.2 |
| mRNA length | 10836 |
| Reference length | 133851895 |
| Deleterious probability by DeFine | 0.8776 (Deleterious) |
|---|
| Entrez Gene ID | 5927 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KDM5A (GeneCards) |
| Number of variants in KDM5A in this database | 3 (view all the variants) |
| Full name | lysine demethylase 5A |
| Band | 12p13.33 |
| Other IDs | Vega: OTTHUMG00000168055 OMIM: 180202 HGNC: HGNC:9886 Ensembl: ENSG00000073614 |
| Other names | RBP2, RBBP2, RBBP-2 |
| Summary | This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013] |
| Individual ID | 28235832.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |