mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for BARD1
Gene summary
Basic gene Info.Gene symbolBARD1
Gene nameBRCA1 associated RING domain 1
CytomapUCSC genome browser: 2q34-q35
Type of geneprotein-coding
DescriptionBRCA1-associated RING domain gene 1BRCA1-associated RING domain protein 1
Modification date20141207
dbXrefs MIM : 601593
Ensembl : ENSG00000138376
HPRD : 03354
Vega : OTTHUMG00000133016
ProteinUniProt: Q99728
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BARD1
BioGPS: 580
PathwayNCI Pathway Interaction Database: BARD1
Pathway Commons: BARD1
ContextiHOP: BARD1
ligand binding site mutation search in PubMed: BARD1
UCL Cancer Institute: BARD1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0046826negative regulation of protein export from nucleus15265711
GO:0085020protein K6-linked ubiquitination12890688

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of BARD1 and the right PPI network was created from samples without mutations in the LBS of BARD1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for BARD1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027819Neuroblastoma10Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms4AlteredExpression, Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BARD1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of BARD1
Multiple alignments for Q99728 in multiple species
LBSAA sequence# speciesSpecies
C50EKLLRCSRCAN2Mus musculus, Rattus norvegicus
C50EKLLRCSRCTN1Homo sapiens
C53LRCSRCTNILR1Homo sapiens
C53LRCSRCANILK1Mus musculus
C53LRCSRCANILR1Rattus norvegicus
C66VCLGGCEHIFC3Homo sapiens, Mus musculus, Rattus norvegicus
C71CEHIFCSGCIS2Mus musculus, Rattus norvegicus
C71CEHIFCSNCVS1Homo sapiens
C74IFCSGCISDCV2Mus musculus, Rattus norvegicus
C74IFCSNCVSDCI1Homo sapiens
C83CIGTGCPVCYT1Homo sapiens
C83CVGSGCPVCYT1Mus musculus
C83CVGSGCPVCHT1Rattus norvegicus
C86TGCPVCYTPAW1Homo sapiens
C86SGCPVCYTPAW1Mus musculus
C86SGCPVCHTPAW1Rattus norvegicus
H68LGGCEHIFCSG2Mus musculus, Rattus norvegicus
H68LGGCEHIFCSN1Homo sapiens

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