| Variant ID | 20986 |
|---|---|
| Entrez Gene ID | 23476 |
| Gene | BRD4 (GeneCards) |
| Location | hg19 19:15424544-15424544
hg38 19:15313733-15313733 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.15424544 T>C (Genome Assembly: GRCh37) |
| 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 |
|---|---|
| EIGEN score | 0.0365 |
| CADD Raw score (version 1.3) | -0.020967 (Deleterious) |
| FATHMM raw prediction score | 0.12782 (Tolerated) |
| Deleterious probability by DeFine | 0.4882 (Neutral) |
| 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 | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |