| Variant ID | 29568 |
|---|---|
| Entrez Gene ID | 81030 |
| Gene | ZBP1 (GeneCards) |
| Location | hg19 20:56188179-56188179
hg38 20:57613123-57613123 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000020.10:g.56188179 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5014 |
| CADD Raw score (version 1.3) | 0.06694 (Deleterious) |
| FATHMM raw prediction score | 0.05037 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | 1.05 (Tolerated) |
| MetaSVM score | -1.047 (Tolerated) |
| MetaLR score | 0.037 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.052 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.592 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.273 |
| Deleterious probability by iFish2 | 0.0127 (Neutral) |
| Deleterious probability by DeFine | 0.6308 (Deleterious) |
| Entrez Gene ID | 81030 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBP1 (GeneCards) |
| Number of variants in ZBP1 in this database | 1 (view all the variants) |
| Full name | Z-DNA binding protein 1 |
| Band | 20q13.31 |
| Other IDs | Vega: OTTHUMG00000032824 OMIM: 606750 HGNC: HGNC:16176 Ensembl: ENSG00000124256 |
| Other names | DAI, DLM1, DLM-1, C20orf183 |
| Summary | This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 28714951.244 (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; |