| Variant ID | 20118 |
|---|---|
| Entrez Gene ID | 26574 |
| Gene | AATF (GeneCards) |
| Location | hg19 17:35434937-35434937
hg38 17:37078004-37078004 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.35434937 G>A (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2009 |
| CADD Raw score (version 1.3) | 0.893637 (Deleterious) |
| FATHMM raw prediction score | 0.07082 (Tolerated) |
| Deleterious probability by DeFine | 0.0555 (Neutral) |
| 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 | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |