| Variant ID | 29407 |
|---|---|
| Entrez Gene ID | 2033 |
| Gene | EP300 (GeneCards) |
| Location | hg19 22:41536148-41536148
hg38 22:41140144-41140144 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.41536148 C>A (Genome Assembly: hg19) |
| 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5631924 |
| Variant occurences in COSMIC | 1(oesophagus) |
| EIGEN score | 0.6677 |
| CADD Raw score (version 1.3) | 4.702194 (Deleterious) |
| FATHMM raw prediction score | 0.99367 (Tolerated) |
| SIFT score | 0.063 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.515 (Tolerated) |
| PROVEAN score | -3.58 (Deleterious) |
| MetaSVM score | 0.374 (Deleterious) |
| MetaLR score | 0.673 (Deleterious) |
| MCAP score | 0.066 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.2 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.84 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.116 |
| Deleterious probability by iFish2 | 0.9845 (Deleterious) |
| Deleterious probability by DeFine | 0.9665 (Deleterious) |
| Entrez Gene ID | 2033 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EP300 (GeneCards) |
| Number of variants in EP300 in this database | 1 (view all the variants) |
| Full name | E1A binding protein p300 |
| Band | 22q13.2 |
| Other IDs | Vega: OTTHUMG00000150937 OMIM: 602700 HGNC: HGNC:3373 Ensembl: ENSG00000100393 |
| Other names | p300, KAT3B, RSTS2 |
| Summary | This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.83 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |