BAZ1B
Summary: This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605681 Ensembl IDEnsembl:ENSG00000009954 HGNC IDHGNC:HGNC:961 PHARMGKB IDPA25271 Map Location7q11.23 | |||||
GO terms in BAZ1B
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006333 | chromatin assembly or disassembly |
| BP | TAS | GO:0006338 | chromatin remodeling |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IDA | GO:0016572 | histone phosphorylation |
Gene expression in normal tissue: BAZ1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BAZ1B
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-5250913 | Positive epigenetic regulation of rRNA expression |
| reactome | R-HSA-5250924 | B-WICH complex positively regulates rRNA expression |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BAZ1B
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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