| Variant ID | 29902 |
|---|---|
| Entrez Gene ID | 26574 |
| Gene | AATF (GeneCards) |
| Location | hg19 17:35413915-35413915
hg38 17:37056615-37056615 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000017.10:g.35413915 G>A (Genome Assembly: hg19) |
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| EIGEN score | 0.2777 |
| CADD Raw score (version 1.3) | 4.669263 (Deleterious) |
| FATHMM raw prediction score | 0.98671 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.645 (Tolerated) |
| MetaSVM score | -0.814 (Tolerated) |
| MetaLR score | 0.162 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.63 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.626 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.829 |
| Deleterious probability by iFish2 | 0.8094 (Deleterious) |
| Deleterious probability by DeFine | 0.9698 (Deleterious) |
| Entrez Gene ID | 26574 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AATF (GeneCards) |
| Number of variants in AATF in this database | 2 (view all the variants) |
| Full name | apoptosis antagonizing transcription factor |
| Band | 17q12 |
| Other IDs | Vega: OTTHUMG00000188458 OMIM: 608463 HGNC: HGNC:19235 Ensembl: ENSG00000275700 |
| Other names | DED, BFR2, CHE1, CHE-1 |
| Summary | The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |