| Variant ID | 29656 |
|---|---|
| Entrez Gene ID | 144455 |
| Gene | E2F7 (GeneCards) |
| Location | hg19 12:77440061-77440061
hg38 12:77046281-77046281 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.77440061 G>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.7263 |
| CADD Raw score (version 1.3) | 1.102364 (Deleterious) |
| FATHMM raw prediction score | 0.95235 (Tolerated) |
| Deleterious probability by DeFine | 0.9038 (Deleterious) |
| Entrez Gene ID | 144455 (NCBI Gene) |
|---|---|
| Official Gene Symbol | E2F7 (GeneCards) |
| Number of variants in E2F7 in this database | 12 (view all the variants) |
| Full name | E2F transcription factor 7 |
| Band | 12q21.2 |
| Other IDs | Vega: OTTHUMG00000169969 OMIM: 612046 HGNC: HGNC:23820 Ensembl: ENSG00000165891 |
| Other names | None |
| Summary | E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] |
| Individual ID | 28714951.332 (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; |