| Variant ID | 29364 |
|---|---|
| Entrez Gene ID | 23476 |
| Gene | BRD4 (GeneCards) |
| Location | hg19 19:15353791-15353791
hg38 19:15242980-15242980 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.15353791 G>A (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003337 |
|---|---|
| EIGEN score | 0.0035 |
| CADD Raw score (version 1.3) | 4.184616 (Deleterious) |
| FATHMM raw prediction score | 0.83465 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0.015 (Tolerated) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 1.67 (Tolerated) |
| PROVEAN score | -1.72 (Tolerated) |
| MetaSVM score | -1.109 (Tolerated) |
| MetaLR score | 0.042 (Tolerated) |
| MCAP score | 0.031 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.21 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.109 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.998 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.644 |
| Deleterious probability by iFish2 | 0.3034 (Neutral) |
| Deleterious probability by DeFine | 0.8991 (Deleterious) |
| Entrez Gene ID | 23476 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BRD4 (GeneCards) |
| Number of variants in BRD4 in this database | 2 (view all the variants) |
| Full name | bromodomain containing 4 |
| Band | 19p13.12 |
| Other IDs | Vega: OTTHUMG00000183252 OMIM: 608749 HGNC: HGNC:13575 Ensembl: ENSG00000141867 |
| Other names | CAP, MCAP, HUNK1, HUNKI |
| Summary | The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.40 (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; |