| Variant ID | 29403 |
|---|---|
| Entrez Gene ID | 253461 |
| Gene | ZBTB38 (GeneCards) |
| Location | hg19 3:141163203-141163203
hg38 3:141444361-141444361 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.141163203 A>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3854 |
| CADD Raw score (version 1.3) | 2.332369 (Deleterious) |
| FATHMM raw prediction score | 0.77012 (Tolerated) |
| SIFT score | 0.02 (Deleterious) |
| LRT score | 0.563 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.95 (Deleterious) |
| PROVEAN score | -0.79 (Tolerated) |
| MetaSVM score | -0.948 (Tolerated) |
| MetaLR score | 0.012 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.327 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.639 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.074 |
| Deleterious probability by iFish2 | 0.4153 (Neutral) |
| Deleterious probability by DeFine | 0.8206 (Deleterious) |
| Entrez Gene ID | 253461 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBTB38 (GeneCards) |
| Number of variants in ZBTB38 in this database | 2 (view all the variants) |
| Full name | zinc finger and BTB domain containing 38 |
| Band | 3q23 |
| Other IDs | Vega: OTTHUMG00000160128 OMIM: 612218 HGNC: HGNC:26636 Ensembl: ENSG00000177311 |
| Other names | CIBZ, ZNF921, PPP1R171 |
| Summary | The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010] |
| Individual ID | 28714951.79 (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; |