| Variant ID | 29600 |
|---|---|
| Entrez Gene ID | 140883 |
| Gene | ZNF280B (GeneCards) |
| Location | hg19 22:22843578-22843578
hg38 22:22489253-22489253 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.22843578 A>C (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 |
|---|---|
| EIGEN score | -0.5302 |
| CADD Raw score (version 1.3) | 0.223296 (Deleterious) |
| FATHMM raw prediction score | 0.75394 (Tolerated) |
| MutationTaster score | 0.941 (Deleterious) |
| MutatioinAssessor score | 1.245 (Tolerated) |
| MetaSVM score | -1.069 (Tolerated) |
| MetaLR score | 0.034 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.262 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.043 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.974 |
| Deleterious probability by iFish2 | 0.7127 (Deleterious) |
| Deleterious probability by DeFine | 0.6915 (Deleterious) |
| Entrez Gene ID | 140883 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF280B (GeneCards) |
| Number of variants in ZNF280B in this database | 1 (view all the variants) |
| Full name | zinc finger protein 280B |
| Band | 22q11.22 |
| Other IDs | Vega: OTTHUMG00000151066 HGNC: HGNC:23022 Ensembl: ENSG00000275004 |
| Other names | SUHW2, ZNF279, ZNF632, "5OY11.1", D87009.C22.3 |
| Summary | The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015] |
| Individual ID | 28714951.276 (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; |