| Variant ID | 29163 |
|---|---|
| Entrez Gene ID | 342933 |
| Gene | ZSCAN5B (GeneCards) |
| Location | hg19 19:56720024-56720024
hg38 19:56208655-56208655 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.56720024 G>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7574 |
| CADD Raw score (version 1.3) | 0.307373 (Deleterious) |
| FATHMM raw prediction score | 0.03497 (Tolerated) |
| SIFT score | 0.026 (Deleterious) |
| MutationTaster score | 0.998 (Tolerated) |
| PROVEAN score | -0.79 (Tolerated) |
| MetaSVM score | -0.961 (Tolerated) |
| MetaLR score | 0.017 (Tolerated) |
| MCAP score | 0 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.205 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.351 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.871 |
| Deleterious probability by DeFine | 0.6456 (Deleterious) |
| Entrez Gene ID | 342933 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZSCAN5B (GeneCards) |
| Number of variants in ZSCAN5B in this database | 2 (view all the variants) |
| Full name | zinc finger and SCAN domain containing 5B |
| Band | 19q13.43 |
| Other IDs | Vega: OTTHUMG00000181827 HGNC: HGNC:34246 Ensembl: ENSG00000197213 |
| Other names | ZNF371, ZNF495B |
| Summary | None |
| Individual ID | 28503910.40 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |