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mutLBSgeneDB |
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| Gene summary for BARD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BARD1 |
| Gene name | BRCA1 associated RING domain 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 2q34-q35 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000465.3, NM_001282543.1,NM_001282545.1,NM_001282548.1,NM_001282549.1, NR_104212.1,NR_104215.1,NR_104216.1, | |
| Description | BRCA1-associated RING domain gene 1BRCA1-associated RING domain protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601593 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138376 | ||
| HPRD : 03354 | ||
| Vega : OTTHUMG00000133016 | ||
| Protein | UniProt: Q99728 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BARD1 | |
| BioGPS: 580 | ||
| Pathway | NCI Pathway Interaction Database: BARD1 | |
| KEGG: BARD1 | ||
| REACTOME: BARD1 | ||
| Pathway Commons: BARD1 | ||
| Context | iHOP: BARD1 | |
| ligand binding site mutation search in PubMed: BARD1 | ||
| UCL Cancer Institute: BARD1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0046826 | negative regulation of protein export from nucleus | 15265711 | GO:0085020 | protein K6-linked ubiquitination | 12890688 |
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| Ligand binding site mutations for BARD1 |
| 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 | C71 | S72I | STAD | 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 BARD1 |
| 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 | C71 | S72I | -0.44727732 |
| (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 BARD1 from PDB |
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| Differential gene expression and gene-gene network for BARD1 |
| 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 BARD1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027819 | Neuroblastoma | 10 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 4 | AlteredExpression, Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BARD1 |
| 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 BARD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 1jm7 | B | C71 |
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| Conservation information for LBS of BARD1 |
| Multiple alignments for Q99728 in multiple species |
| LBS | AA sequence | # species | Species | C50 | EKLLRCSRCAN | 2 | Mus musculus, Rattus norvegicus | C50 | EKLLRCSRCTN | 1 | Homo sapiens | C53 | LRCSRCTNILR | 1 | Homo sapiens | C53 | LRCSRCANILK | 1 | Mus musculus | C53 | LRCSRCANILR | 1 | Rattus norvegicus | C66 | VCLGGCEHIFC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C71 | CEHIFCSGCIS | 2 | Mus musculus, Rattus norvegicus | C71 | CEHIFCSNCVS | 1 | Homo sapiens | C74 | IFCSGCISDCV | 2 | Mus musculus, Rattus norvegicus | C74 | IFCSNCVSDCI | 1 | Homo sapiens | C83 | CIGTGCPVCYT | 1 | Homo sapiens | C83 | CVGSGCPVCYT | 1 | Mus musculus | C83 | CVGSGCPVCHT | 1 | Rattus norvegicus | C86 | TGCPVCYTPAW | 1 | Homo sapiens | C86 | SGCPVCYTPAW | 1 | Mus musculus | C86 | SGCPVCHTPAW | 1 | Rattus norvegicus | H68 | LGGCEHIFCSG | 2 | Mus musculus, Rattus norvegicus | H68 | LGGCEHIFCSN | 1 | Homo sapiens |
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