| Variant ID | 29703 |
|---|---|
| Entrez Gene ID | 7709 |
| Gene | ZBTB17 (GeneCards) |
| Location | hg19 1:16269685-16269685
hg38 1:15943190-15943190 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.16269685 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003235 |
|---|---|
| EIGEN score | 0.3441 |
| CADD Raw score (version 1.3) | 5.441939 (Deleterious) |
| FATHMM raw prediction score | 0.97918 (Tolerated) |
| SIFT score | 0.124 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.49 (Tolerated) |
| PROVEAN score | -0.34 (Tolerated) |
| MetaSVM score | -0.775 (Tolerated) |
| MetaLR score | 0.028 (Tolerated) |
| MCAP score | 0.023 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.2 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.85 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.112 |
| Deleterious probability by iFish2 | 0.0318 (Neutral) |
| Deleterious probability by DeFine | 0.966 (Deleterious) |
| Entrez Gene ID | 7709 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBTB17 (GeneCards) |
| Number of variants in ZBTB17 in this database | 1 (view all the variants) |
| Full name | zinc finger and BTB domain containing 17 |
| Band | 1p36.13 |
| Other IDs | Vega: OTTHUMG00000009377 OMIM: 604084 HGNC: HGNC:12936 Ensembl: ENSG00000116809 |
| Other names | MIZ-1, ZNF60, ZNF151, pHZ-67 |
| Summary | This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |