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mutLBSgeneDB |
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| Gene summary for BRD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BRD1 |
| Gene name | bromodomain containing 1 | |
| Synonyms | BRL|BRPF1|BRPF2 | |
| Cytomap | UCSC genome browser: 22q13.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_014577.1, | |
| Description | BR140-like proteinbromodomain and PHD finger-containing protein 2bromodomain-containing protein 1 | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 604589 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100425 | ||
| HPRD : 06848 | ||
| Vega : OTTHUMG00000150288 | ||
| Protein | UniProt: O95696 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BRD1 | |
| BioGPS: 23774 | ||
| Pathway | NCI Pathway Interaction Database: BRD1 | |
| KEGG: BRD1 | ||
| REACTOME: BRD1 | ||
| Pathway Commons: BRD1 | ||
| Context | iHOP: BRD1 | |
| ligand binding site mutation search in PubMed: BRD1 | ||
| UCL Cancer Institute: BRD1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0043966 | histone H3 acetylation | 16387653 |
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| Ligand binding site mutations for BRD1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C385 | C385Y | BLCA | 1 | S997 | R996S | COAD | 1 | H388 | T389M | HNSC | 1 | C258 | R259C | STAD | 1 | Y940 | Y940C | STAD | 1 | F648 | V647M | STAD | 1 | C258 | R259H | STAD | 1 | C385 | A383T | UCEC | 1 | Y943 | P944Q | UCEC | 1 | C638 | C638Y | UCEC | 1 | Y599 | D598Y | UCEC | 1 | F648 | V647M | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for BRD1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | C385 | A383T | -1.3158874 | C258 | R259H | -1.2038794 | C638 | C638Y | -1.1932111 | Y940 | Y940C | -1.1568137 | S997 | R996S | -1.1267772 | C258 | R259C | -0.95172878 | Y943 | P944Q | -0.71853522 | C385 | C385Y | -0.68796915 | F648 | V647M | -0.67221786 | Y599 | D598Y | -0.38647451 | H388 | T389M | -0.30594802 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for BRD1 from PDB |
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| Differential gene expression and gene-gene network for BRD1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for BRD1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0010606 | Carcinoma, Adenoid Cystic | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BRD1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BRD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2lq6 | A | C385 H388 | MB3 | N-METHYLPYRROLIDIN-2-ONE | 3rcw | C | C638 F648 | OCS | L-CYSTEIC ACID | 3lyi | A | S997 | 4K8 | ISOQUINOLINE-3-CARBOXYLIC ACID | 4z02 | A | Y940 Y943 S997 | 4K8 | ISOQUINOLINE-3-CARBOXYLIC ACID | 4z02 | B | Y943 S997 |
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| Conservation information for LBS of BRD1 |
| Multiple alignments for O95696 in multiple species |
| LBS | AA sequence | # species | Species |
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