| Variant ID | 1186 |
|---|---|
| Entrez Gene ID | 29994 |
| Gene | BAZ2B (GeneCards) |
| Location | hg19 2:160239207-160239207
hg38 2:159382696-159382696 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000002.11:g.160239207 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1290 |
| Amino acid changes in protein | R > * |
| Position in cDNA | 3868 |
| Changes in cDNA | C > T |
| mRNA accession | NM_013450.2 |
| mRNA length | 8145 |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4341 |
| CADD Raw score (version 1.3) | 12.618057 (Deleterious) |
| FATHMM raw prediction score | 0.92704 (Tolerated) |
| LRT score | 0.102 |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.85 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.824 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.994 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.407 |
| Deleterious probability by DeFine | 0.9041 (Deleterious) |
| Entrez Gene ID | 29994 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BAZ2B (GeneCards) |
| Number of variants in BAZ2B in this database | 6 (view all the variants) |
| Full name | bromodomain adjacent to zinc finger domain 2B |
| Band | 2q24.2 |
| Other IDs | Vega: OTTHUMG00000132027 OMIM: 605683 HGNC: HGNC:963 Ensembl: ENSG00000226266 |
| Other names | WALp4 |
| Summary | This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016] |
| Individual ID | 28867142.85 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |