| Variant ID | 1587 |
|---|---|
| Entrez Gene ID | 49854 |
| Gene | ZBTB21 (GeneCards) |
| Location | hg19 21:43412738-43412738
hg38 21:41992629-41992629 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000021.8:g.43412738 G>T (Genome Assembly: GRCh37) |
| 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 | NM_001320731.1 |
| mRNA length | 7633 |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6569 |
| CADD Raw score (version 1.3) | 0.968811 (Deleterious) |
| FATHMM raw prediction score | 0.9363 (Tolerated) |
| SIFT score | 0.061 (Tolerated) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 0.54 (Deleterious) |
| MutatioinAssessor score | 2.545 (Deleterious) |
| PROVEAN score | -1.28 (Tolerated) |
| MetaSVM score | -1.035 (Tolerated) |
| MetaLR score | 0.022 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.433 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.725 |
| Deleterious probability by iFish2 | 0.5233 (Deleterious) |
| Deleterious probability by DeFine | 0.8813 (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 | 28235832.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |