| Variant ID | 16426 |
|---|---|
| Entrez Gene ID | 5927 |
| Gene | KDM5A (GeneCards) |
| Location | hg19 12:402345-402345
hg38 12:293179-293179 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.402345 T>C (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6888 |
| CADD Raw score (version 1.3) | 0.006039 (Deleterious) |
| FATHMM raw prediction score | 0.75832 (Tolerated) |
| Deleterious probability by DeFine | 0.7452 (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 | 29217584.09 (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; |