mutLBSgeneDB

mutLBSgeneDB
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 BRCA1
Gene summary
Basic gene Info.Gene symbolBRCA1
Gene namebreast cancer 1, early onset
SynonymsBRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53
CytomapUCSC genome browser: 17q21
Type of geneprotein-coding
RefGenesNM_007294.3,
NM_007297.3,NM_007298.3,NM_007299.3,NM_007300.3,
NR_027676.1,NM_007295.2,NM_007296.2,NM_007301.2,
NM_007302.2,NM_007303.2,NM_007305.2,NM_007306.2,
DescriptionBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast and ovarian cancer sususceptibility protein 1breast cancer type 1 susceptibility proteinpr
Modification date20141222
dbXrefs MIM : 113705
HGNC : HGNC
Ensembl : ENSG00000012048
HPRD : 00218
Vega : OTTHUMG00000157426
ProteinUniProt: P38398
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BRCA1
BioGPS: 672
PathwayNCI Pathway Interaction Database: BRCA1
KEGG: BRCA1
REACTOME: BRCA1
Pathway Commons: BRCA1
ContextiHOP: BRCA1
ligand binding site mutation search in PubMed: BRCA1
UCL Cancer Institute: BRCA1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000724double-strand break repair via homologous recombination17349954
GO:0006301postreplication repair17349954
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage14654789
GO:0016567protein ubiquitination17349954
GO:0031398positive regulation of protein ubiquitination15965487
GO:0035066positive regulation of histone acetylation20820192
GO:0043627response to estrogen8895509
GO:0045892negative regulation of transcription, DNA-templated16288014
GO:0045944positive regulation of transcription from RNA polymerase II promoter16331276
GO:0051571positive regulation of histone H3-K4 methylation20820192
GO:0051573negative regulation of histone H3-K9 methylation20820192
GO:0051865protein autoubiquitination12890688
GO:0070512positive regulation of histone H4-K20 methylation20820192
GO:0071158positive regulation of cell cycle arrest21102443
GO:0071681cellular response to indole-3-methanol10868478
GO:0085020protein K6-linked ubiquitination12890688
GO:2000617positive regulation of histone H3-K9 acetylation20820192
GO:2000620positive regulation of histone H4-K16 acetylation20820192


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Ligand binding site mutations for BRCA1
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
Q1811Q1811LBRCA1
C47C47RCOAD1
R1699R1699LLUAD1
D1813D1813HLUAD1
C47C47WOV1
T1691D1692NSTAD1
C47L49MUCEC1
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 BRCA1
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
Q1811Q1811L0.053565277
C47C47R-0.87127923
C47C47W-0.83054193
C47L49M-0.55930462
D1813D1813H-0.48018657
T1691D1692N-0.25577157
R1699R1699L-0.20458553
(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 BRCA1 from PDB

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Differential gene expression and gene-gene network for BRCA1
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 BRCA1 and the right PPI network was created from samples without mutations in the LBS of BRCA1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for BRCA1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0006142Malignant neoplasm breast2210Biomarker, GeneticVariation
umls:C1140680Malignant neoplasm of ovary1376Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms377AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification
umls:C0346153Breast Cancer, Familial257Biomarker, GeneticVariation
umls:C0919267Ovarian Neoplasms209AlteredExpression, Biomarker, GeneticVariation
umls:C0677776Hereditary Breast and Ovarian Cancer Syndrome196Biomarker, GeneticVariation
umls:C0007097Carcinoma91AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification
umls:C0024667Mammary Neoplasms, Animal79Biomarker, GeneticVariation
umls:C0027651Neoplasms47AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic
umls:C0033578Prostatic Neoplasms16Biomarker, GeneticVariation
umls:C0027672Neoplastic Syndromes, Hereditary5Biomarker, GeneticVariation
umls:C0007621Cell Transformation, Neoplastic2Biomarker, GeneticVariation
umls:C0024668Mammary Neoplasms, Experimental1Biomarker
umls:C0010606Carcinoma, Adenoid Cystic1Biomarker
umls:C0376628Chromosome Breakage1Biomarker
umls:C0026636Mouth Diseases1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
46188D1692NLikely pathogenic;PathogenicGermlineGeneReviews:NBK1247
MedGen:C0346153
OMIM:114480
SNOMED CT:254843006
GeneReviews:NBK1247
MedGen:C2676676
OMIM:604370
Orphanet:ORPHA145
70065R1699LUncertain significanceGermlineGeneReviews:NBK1247
MedGen:C0346153
OMIM:114480
SNOMED CT:254843006
GeneReviews:NBK1247
MedGen:C2676676
OMIM:604370
Orphanet:ORPHA145

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Pharmacological information for BRCA1
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 BRCA1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)1jm7AC47
IIIPeptide ligand (SER,THR,SER,PRO,THR,PHE,ASN,LYS)1t15AR1699
IIIPeptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA,LYS)1t2vAR1699
IIIPeptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA,LYS)1t2vBR1699
IIIPeptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA,LYS)1t2vCR1699
IIIPeptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO)1t2vDR1699
IIIPeptide ligand (ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA)1t2vER1699
IIIPeptide ligand (PRO,THR,ARG,VAL,SER,SER,PRO,VAL,PHE,GLY,ALA,THR)1y98AR1699
IIIPeptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY)3cojXR1699
IIIPeptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY)3cojAR1699
IIIPeptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY)3cojBR1699
IIIPeptide ligand (ASP,SER,PRO,PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY)3cojCR1699
IIIPeptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY)3cojDR1699
IIIPeptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO)3cojER1699
IIIPeptide ligand (GLN,SER,PRO,THR,PHE)3cojFR1699
IIIPeptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO)3cojGR1699
IIIPeptide ligand (SER,PRO,THR,PHE,NH2)3k0hAR1699
IIIPeptide ligand (SER,PRO,THR,PHE)3k0kAR1699
IIIPeptide ligand (SER,PRO,THR,PHE,NH2)3k15AR1699
IIIPeptide ligand (SER,PRO,THR,PHE)3k16AR1699
IIIPeptide ligand (SER,THR,SER,PRO,THR,PHE,ASN)3pxeAR1699
IIIPeptide ligand (SER,PRO,THR,PHE,ASN)3pxeBR1699
IIIPeptide ligand (THR,SER,PRO,THR,PHE,ASN)3pxeCR1699
IIIPeptide ligand (THR,SER,PRO,THR,PHE,ASN)3pxeDR1699
IIIPeptide ligand (ARG,SER,PRO,VAL,PHE,SER)4ifiAR1699
IIIPeptide ligand (ALA,CYS,SER,PRO,GLN,PHE,GLY)4igkAR1699
IIIPeptide ligand (CYS,SER,PRO,GLN,PHE,GLY)4igkBR1699
IIIPeptide ligand (ACE,THR,ILE,ASP,PHE,ASP,GLU,TYR,ARG,PHE,ARG,LYS,THR,NH2)4ofbAR1699
IIIPeptide ligand (GLY,GLU,TYR,SER,ARG,SER,PRO,THR,PHE)4u4aAR1699
IIIPeptide ligand (GLY,PHE,GLY,GLU,TYR,SER,ARG,SER,PRO,THR,PHE)4u4aBR1699
IIIPeptide ligand (TYR,SER,ARG,SER,PRO,THR,PHE)4u4aCR1699
IIIPeptide ligand (GLY,PHE,GLY,GLU,TYR,SER,ARG,SER,PRO,THR,PHE)4jluAT1691 R1699
IIIPeptide ligand (ILE,SER,ARG,SER,THR,SER,PRO,THR,PHE,ASN,LYS,GLN)1t29AT1691 R1699 Q1811 D1813


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Conservation information for LBS of BRCA1
Multiple alignments for P38398 in multiple species
LBSAA sequence# speciesSpecies
C24QKILECPICLE7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
C27LECPICLELIK7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
C39PVSTKCDHIFC6Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
C39PVSTQCDHIFC1Rattus norvegicus
C44CDHIFCKFCML6Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Pan troglodytes
C44CDHIFCRFCML1Macaca mulatta
C47IFCKFCMLKLL6Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Pan troglodytes
C47IFCRFCMLKLL1Macaca mulatta
C61KGPSQCPLCKN7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
C64SQCPLCKNDIT5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
C64SQCPLCKNEIT2Mus musculus, Rattus norvegicus
D1813VVVQPDAWTED5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
D1813VIVQPSAWTED1Mus musculus
D1813VLVQPSAWTED1Rattus norvegicus
D1840REWVLDSVALY5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
D1840WDWVLDSLSSY1Mus musculus
D1840WDWVLDSISVY1Rattus norvegicus
E1661GLTPEEFMLVY3Homo sapiens, Macaca mulatta, Pan troglodytes
E1661GLTPKEVMTVQ1Mus musculus
E1661GLTPKEVMIVQ1Rattus norvegicus
E1661GLTPKELMLVQ1Bos taurus
E1661GLTPKEFMLVH1Canis lupus familiaris
E1698AEFVCERTLKY6Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
E1698PEFVCERTLKY1Bos taurus
E1836PVVTREWVLDS5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
E1836RLVMWDWVLDS2Mus musculus, Rattus norvegicus
F1662LTPEEFMLVYK3Homo sapiens, Macaca mulatta, Pan troglodytes
F1662LTPKEVMTVQK1Mus musculus
F1662LTPKEVMIVQK1Rattus norvegicus
F1662LTPKELMLVQK1Bos taurus
F1662LTPKEFMLVHK1Canis lupus familiaris
F1704RTLKYFLGIAG7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
G1656SMVVSGLTPEE2Homo sapiens, Pan troglodytes
G1656SMVVSGLTPKE2Mus musculus, Rattus norvegicus
G1656SMVASGLTPKE2Bos taurus, Canis lupus familiaris
G1656SLVVSGLTPEE1Macaca mulatta
H41STKCDHIFCKF5Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes
H41STQCDHIFCKF1Rattus norvegicus
H41STKCDHIFCRF1Macaca mulatta
I26ILECPICLELI7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
K1690THVVMKTDAEF3Homo sapiens, Macaca mulatta, Pan troglodytes
K1690THVIIKTDAEF2Mus musculus, Rattus norvegicus
K1690THVIMKTDPEF1Bos taurus
K1690THVIMKTDAEF1Canis lupus familiaris
K1702CERTLKYFLGI7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
L1657MVVSGLTPEEF2Homo sapiens, Pan troglodytes
L1657MVVSGLTPKEV2Mus musculus, Rattus norvegicus
L1657MVASGLTPKEL1Bos taurus
L1657MVASGLTPKEF1Canis lupus familiaris
L1657LVVSGLTPEEF1Macaca mulatta
L1701VCERTLKYFLG7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
L1839TREWVLDSVAL5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
L1839MWDWVLDSLSS1Mus musculus
L1839MWDWVLDSISV1Rattus norvegicus
M1775GPFTNMPTDQL5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
M1775EPFTNMPKDEL2Mus musculus, Rattus norvegicus
N1678HITLTNLITEE2Homo sapiens, Pan troglodytes
N1678RLTLTDAITEE1Mus musculus
N1678RLALTDVITEE1Rattus norvegicus
N1678HVTLTNLITEE1Bos taurus
N1678HISLTNLISEE1Canis lupus familiaris
N1678HIALTNLISEE1Macaca mulatta
N1774YGPFTNMPTDQ5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
N1774CEPFTNMPKDE2Mus musculus, Rattus norvegicus
P1659VSGLTPEEFML3Homo sapiens, Macaca mulatta, Pan troglodytes
P1659VSGLTPKEVMT1Mus musculus
P1659VSGLTPKEVMI1Rattus norvegicus
P1659ASGLTPKELML1Bos taurus
P1659ASGLTPKEFML1Canis lupus familiaris
Q1811PIVVVQPDAWT3Homo sapiens, Macaca mulatta, Pan troglodytes
Q1811PVVVVQPDAWT2Bos taurus, Canis lupus familiaris
Q1811LVVIVQPSAWT1Mus musculus
Q1811PIVLVQPSAWT1Rattus norvegicus
R1699EFVCERTLKYF7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
R1835APVVTREWVLD5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
R1835ARLVMWDWVLD1Mus musculus
R1835GRLVMWDWVLD1Rattus norvegicus
S1655MSMVVSGLTPE2Homo sapiens, Pan troglodytes
S1655ISMVVSGLTPK2Mus musculus, Rattus norvegicus
S1655LSMVASGLTPK1Bos taurus
S1655ISMVASGLTPK1Canis lupus familiaris
S1655MSLVVSGLTPE1Macaca mulatta
T1658VVSGLTPEEFM3Homo sapiens, Macaca mulatta, Pan troglodytes
T1658VVSGLTPKEVM2Mus musculus, Rattus norvegicus
T1658VASGLTPKELM1Bos taurus
T1658VASGLTPKEFM1Canis lupus familiaris
T1691HVVMKTDAEFV3Homo sapiens, Macaca mulatta, Pan troglodytes
T1691HVIIKTDAEFV2Mus musculus, Rattus norvegicus
T1691HVIMKTDPEFV1Bos taurus
T1691HVIMKTDAEFV1Canis lupus familiaris
T1700FVCERTLKYFL7Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
V1654RMSMVVSGLTP2Homo sapiens, Pan troglodytes
V1654DISMVVSGLTP2Mus musculus, Rattus norvegicus
V1654RLSMVASGLTP1Bos taurus
V1654RISMVASGLTP1Canis lupus familiaris
V1654RMSLVVSGLTP1Macaca mulatta
V1696TDAEFVCERTL6Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
V1696TDPEFVCERTL1Bos taurus
V1740EVRGDVVNGRN5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
V1740EVKGDVVTGRN1Mus musculus
V1740EVKGDVVTGSN1Rattus norvegicus
V1741VRGDVVNGRNH5Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
V1741VKGDVVTGRNH1Mus musculus
V1741VKGDVVTGSNH1Rattus norvegicus
Y1853QELDTYLIPQI4Homo sapiens, Canis lupus familiaris, Macaca mulatta, Pan troglodytes
Y1853RDLDAYLVQNI2Mus musculus, Rattus norvegicus
Y1853QELDTYLVP--1Bos taurus


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