| Variant ID | 29678 |
|---|---|
| Entrez Gene ID | 7727 |
| Gene | ZNF174 (GeneCards) |
| Location | hg19 16:3452387-3452387
hg38 16:3402387-3402387 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.3452387 C>T (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1851 |
| CADD Raw score (version 1.3) | 6.315118 (Deleterious) |
| FATHMM raw prediction score | 0.81614 (Tolerated) |
| SIFT score | 0.041 (Deleterious) |
| LRT score | 0.128 (Tolerated) |
| MutationTaster score | 0.897 (Deleterious) |
| MutatioinAssessor score | 0.77 (Tolerated) |
| PROVEAN score | -2.57 (Deleterious) |
| MetaSVM score | -1.047 (Tolerated) |
| MetaLR score | 0.026 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.609 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.745 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.002 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.522 |
| Deleterious probability by iFish2 | 0.0793 (Neutral) |
| Deleterious probability by DeFine | 0.8311 (Deleterious) |
| Entrez Gene ID | 7727 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF174 (GeneCards) |
| Number of variants in ZNF174 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 174 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000129358 OMIM: 603900 HGNC: HGNC:12963 Ensembl: ENSG00000103343 |
| Other names | ZSCAN8 |
| Summary | This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016] |
| Individual ID | 28714951.354 (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; |