| Variant ID | 29540 |
|---|---|
| Entrez Gene ID | 49854 |
| Gene | ZBTB21 (GeneCards) |
| Location | hg19 21:43412590-43412590
hg38 21:41992481-41992481 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000021.8:g.43412590 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4977 |
| CADD Raw score (version 1.3) | 3.640275 (Deleterious) |
| FATHMM raw prediction score | 0.9538 (Tolerated) |
| SIFT score | 0.213 (Tolerated) |
| LRT score | 0.007 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.04 (Tolerated) |
| PROVEAN score | -0.58 (Tolerated) |
| MetaSVM score | -1.053 (Tolerated) |
| MetaLR score | 0.029 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.77 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.378 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.991 |
| Deleterious probability by iFish2 | 0.7605 (Deleterious) |
| Deleterious probability by DeFine | 0.9347 (Deleterious) |
| Entrez Gene ID | 49854 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBTB21 (GeneCards) |
| Number of variants in ZBTB21 in this database | 3 (view all the variants) |
| Full name | zinc finger and BTB domain containing 21 |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000086789 OMIM: 616485 HGNC: HGNC:13083 Ensembl: ENSG00000173276 |
| Other names | ZNF295 |
| Summary | None |
| Individual ID | 28714951.216 (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; |