mutLBSgeneDB
mutLBSgeneDB
mutated Ligand Binding Site gene DataBase
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Gene summary |
Basic gene Info. | Gene symbol | BRCA1 |
Gene name | breast cancer 1, early onset |
Synonyms | BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53 |
Cytomap | UCSC genome browser: 17q21 |
Type of gene | protein-coding |
RefGenes | NM_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,
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Description | BRCA1/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 date | 20141222 |
dbXrefs | MIM : 113705 |
HGNC : HGNC |
Ensembl : ENSG00000012048 |
HPRD : 00218 |
Vega : OTTHUMG00000157426 |
Protein | UniProt: P38398 go to UniProt's Cross Reference DB Table |
Expression | CleanEX: HS_BRCA1 |
BioGPS: 672 |
Pathway | NCI Pathway Interaction Database: BRCA1 |
KEGG: BRCA1 |
REACTOME: BRCA1 |
Pathway Commons: BRCA1 |
Context | iHOP: BRCA1 |
ligand binding site mutation search in PubMed: BRCA1 |
UCL Cancer Institute: BRCA1 |
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
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 |
LBS | AAchange of nsSNV | Cancer type | # samples |
Q1811 | Q1811L | BRCA | 1 | C47 | C47R | COAD | 1 | R1699 | R1699L | LUAD | 1 | D1813 | D1813H | LUAD | 1 | C47 | C47W | OV | 1 | T1691 | D1692N | STAD | 1 | C47 | L49M | 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. |
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. |
LBS | AAchange of nsSNV | Relative stability change |
Q1811 | Q1811L | 0.053565277 | C47 | C47R | -0.87127923 | C47 | C47W | -0.83054193 | C47 | L49M | -0.55930462 | D1813 | D1813H | -0.48018657 | T1691 | D1692N | -0.25577157 | R1699 | R1699L | -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 |
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) |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0006142 | Malignant neoplasm breast | 2210 | Biomarker, GeneticVariation |
umls:C1140680 | Malignant neoplasm of ovary | 1376 | Biomarker, GeneticVariation |
umls:C1458155 | Breast Neoplasms | 377 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
umls:C0346153 | Breast Cancer, Familial | 257 | Biomarker, GeneticVariation |
umls:C0919267 | Ovarian Neoplasms | 209 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 196 | Biomarker, GeneticVariation |
umls:C0007097 | Carcinoma | 91 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
umls:C0024667 | Mammary Neoplasms, Animal | 79 | Biomarker, GeneticVariation |
umls:C0027651 | Neoplasms | 47 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic |
umls:C0033578 | Prostatic Neoplasms | 16 | Biomarker, GeneticVariation |
umls:C0027672 | Neoplastic Syndromes, Hereditary | 5 | Biomarker, GeneticVariation |
umls:C0007621 | Cell Transformation, Neoplastic | 2 | Biomarker, GeneticVariation |
umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
umls:C0010606 | Carcinoma, Adenoid Cystic | 1 | Biomarker |
umls:C0376628 | Chromosome Breakage | 1 | Biomarker |
umls:C0026636 | Mouth Diseases | 1 | Biomarker |
umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
46188 | D1692N | Likely pathogenic;Pathogenic | Germline | GeneReviews:NBK1247 MedGen:C0346153 OMIM:114480 SNOMED CT:254843006 GeneReviews:NBK1247 MedGen:C2676676 OMIM:604370 Orphanet:ORPHA145
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70065 | R1699L | Uncertain significance | Germline | GeneReviews:NBK1247 MedGen:C0346153 OMIM:114480 SNOMED CT:254843006 GeneReviews:NBK1247 MedGen:C2676676 OMIM:604370 Orphanet:ORPHA145
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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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of BRCA1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
ZN | | ZINC(2+) | 1jm7 | A | C47 | III | | Peptide ligand (SER,THR,SER,PRO,THR,PHE,ASN,LYS) | 1t15 | A | R1699 | III | | Peptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA,LYS) | 1t2v | A | R1699 | III | | Peptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA,LYS) | 1t2v | B | R1699 | III | | Peptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA,LYS) | 1t2v | C | R1699 | III | | Peptide ligand (GLY,ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO) | 1t2v | D | R1699 | III | | Peptide ligand (ALA,ALA,TYR,ASP,ILE,SER,GLN,VAL,PHE,PRO,PHE,ALA) | 1t2v | E | R1699 | III | | Peptide ligand (PRO,THR,ARG,VAL,SER,SER,PRO,VAL,PHE,GLY,ALA,THR) | 1y98 | A | R1699 | III | | Peptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY) | 3coj | X | R1699 | III | | Peptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY) | 3coj | A | R1699 | III | | Peptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY) | 3coj | B | R1699 | III | | Peptide ligand (ASP,SER,PRO,PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY) | 3coj | C | R1699 | III | | Peptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO,GLU,ALA,GLY) | 3coj | D | R1699 | III | | Peptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO) | 3coj | E | R1699 | III | | Peptide ligand (GLN,SER,PRO,THR,PHE) | 3coj | F | R1699 | III | | Peptide ligand (PRO,GLN,SER,PRO,THR,PHE,PRO) | 3coj | G | R1699 | III | | Peptide ligand (SER,PRO,THR,PHE,NH2) | 3k0h | A | R1699 | III | | Peptide ligand (SER,PRO,THR,PHE) | 3k0k | A | R1699 | III | | Peptide ligand (SER,PRO,THR,PHE,NH2) | 3k15 | A | R1699 | III | | Peptide ligand (SER,PRO,THR,PHE) | 3k16 | A | R1699 | III | | Peptide ligand (SER,THR,SER,PRO,THR,PHE,ASN) | 3pxe | A | R1699 | III | | Peptide ligand (SER,PRO,THR,PHE,ASN) | 3pxe | B | R1699 | III | | Peptide ligand (THR,SER,PRO,THR,PHE,ASN) | 3pxe | C | R1699 | III | | Peptide ligand (THR,SER,PRO,THR,PHE,ASN) | 3pxe | D | R1699 | III | | Peptide ligand (ARG,SER,PRO,VAL,PHE,SER) | 4ifi | A | R1699 | III | | Peptide ligand (ALA,CYS,SER,PRO,GLN,PHE,GLY) | 4igk | A | R1699 | III | | Peptide ligand (CYS,SER,PRO,GLN,PHE,GLY) | 4igk | B | R1699 | III | | Peptide ligand (ACE,THR,ILE,ASP,PHE,ASP,GLU,TYR,ARG,PHE,ARG,LYS,THR,NH2) | 4ofb | A | R1699 | III | | Peptide ligand (GLY,GLU,TYR,SER,ARG,SER,PRO,THR,PHE) | 4u4a | A | R1699 | III | | Peptide ligand (GLY,PHE,GLY,GLU,TYR,SER,ARG,SER,PRO,THR,PHE) | 4u4a | B | R1699 | III | | Peptide ligand (TYR,SER,ARG,SER,PRO,THR,PHE) | 4u4a | C | R1699 | III | | Peptide ligand (GLY,PHE,GLY,GLU,TYR,SER,ARG,SER,PRO,THR,PHE) | 4jlu | A | T1691 R1699 | III | | Peptide ligand (ILE,SER,ARG,SER,THR,SER,PRO,THR,PHE,ASN,LYS,GLN) | 1t29 | A | T1691 R1699 Q1811 D1813 |
Multiple alignments for P38398 in multiple species |
LBS | AA sequence | # species | Species |
C24 | QKILECPICLE | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | C27 | LECPICLELIK | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | C39 | PVSTKCDHIFC | 6 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | C39 | PVSTQCDHIFC | 1 | Rattus norvegicus | C44 | CDHIFCKFCML | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Pan troglodytes | C44 | CDHIFCRFCML | 1 | Macaca mulatta | C47 | IFCKFCMLKLL | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Pan troglodytes | C47 | IFCRFCMLKLL | 1 | Macaca mulatta | C61 | KGPSQCPLCKN | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | C64 | SQCPLCKNDIT | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | C64 | SQCPLCKNEIT | 2 | Mus musculus, Rattus norvegicus | D1813 | VVVQPDAWTED | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | D1813 | VIVQPSAWTED | 1 | Mus musculus | D1813 | VLVQPSAWTED | 1 | Rattus norvegicus | D1840 | REWVLDSVALY | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | D1840 | WDWVLDSLSSY | 1 | Mus musculus | D1840 | WDWVLDSISVY | 1 | Rattus norvegicus | E1661 | GLTPEEFMLVY | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | E1661 | GLTPKEVMTVQ | 1 | Mus musculus | E1661 | GLTPKEVMIVQ | 1 | Rattus norvegicus | E1661 | GLTPKELMLVQ | 1 | Bos taurus | E1661 | GLTPKEFMLVH | 1 | Canis lupus familiaris | E1698 | AEFVCERTLKY | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | E1698 | PEFVCERTLKY | 1 | Bos taurus | E1836 | PVVTREWVLDS | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | E1836 | RLVMWDWVLDS | 2 | Mus musculus, Rattus norvegicus | F1662 | LTPEEFMLVYK | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | F1662 | LTPKEVMTVQK | 1 | Mus musculus | F1662 | LTPKEVMIVQK | 1 | Rattus norvegicus | F1662 | LTPKELMLVQK | 1 | Bos taurus | F1662 | LTPKEFMLVHK | 1 | Canis lupus familiaris | F1704 | RTLKYFLGIAG | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | G1656 | SMVVSGLTPEE | 2 | Homo sapiens, Pan troglodytes | G1656 | SMVVSGLTPKE | 2 | Mus musculus, Rattus norvegicus | G1656 | SMVASGLTPKE | 2 | Bos taurus, Canis lupus familiaris | G1656 | SLVVSGLTPEE | 1 | Macaca mulatta | H41 | STKCDHIFCKF | 5 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris, Pan troglodytes | H41 | STQCDHIFCKF | 1 | Rattus norvegicus | H41 | STKCDHIFCRF | 1 | Macaca mulatta | I26 | ILECPICLELI | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | K1690 | THVVMKTDAEF | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | K1690 | THVIIKTDAEF | 2 | Mus musculus, Rattus norvegicus | K1690 | THVIMKTDPEF | 1 | Bos taurus | K1690 | THVIMKTDAEF | 1 | Canis lupus familiaris | K1702 | CERTLKYFLGI | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | L1657 | MVVSGLTPEEF | 2 | Homo sapiens, Pan troglodytes | L1657 | MVVSGLTPKEV | 2 | Mus musculus, Rattus norvegicus | L1657 | MVASGLTPKEL | 1 | Bos taurus | L1657 | MVASGLTPKEF | 1 | Canis lupus familiaris | L1657 | LVVSGLTPEEF | 1 | Macaca mulatta | L1701 | VCERTLKYFLG | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | L1839 | TREWVLDSVAL | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | L1839 | MWDWVLDSLSS | 1 | Mus musculus | L1839 | MWDWVLDSISV | 1 | Rattus norvegicus | M1775 | GPFTNMPTDQL | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | M1775 | EPFTNMPKDEL | 2 | Mus musculus, Rattus norvegicus | N1678 | HITLTNLITEE | 2 | Homo sapiens, Pan troglodytes | N1678 | RLTLTDAITEE | 1 | Mus musculus | N1678 | RLALTDVITEE | 1 | Rattus norvegicus | N1678 | HVTLTNLITEE | 1 | Bos taurus | N1678 | HISLTNLISEE | 1 | Canis lupus familiaris | N1678 | HIALTNLISEE | 1 | Macaca mulatta | N1774 | YGPFTNMPTDQ | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | N1774 | CEPFTNMPKDE | 2 | Mus musculus, Rattus norvegicus | P1659 | VSGLTPEEFML | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | P1659 | VSGLTPKEVMT | 1 | Mus musculus | P1659 | VSGLTPKEVMI | 1 | Rattus norvegicus | P1659 | ASGLTPKELML | 1 | Bos taurus | P1659 | ASGLTPKEFML | 1 | Canis lupus familiaris | Q1811 | PIVVVQPDAWT | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | Q1811 | PVVVVQPDAWT | 2 | Bos taurus, Canis lupus familiaris | Q1811 | LVVIVQPSAWT | 1 | Mus musculus | Q1811 | PIVLVQPSAWT | 1 | Rattus norvegicus | R1699 | EFVCERTLKYF | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | R1835 | APVVTREWVLD | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | R1835 | ARLVMWDWVLD | 1 | Mus musculus | R1835 | GRLVMWDWVLD | 1 | Rattus norvegicus | S1655 | MSMVVSGLTPE | 2 | Homo sapiens, Pan troglodytes | S1655 | ISMVVSGLTPK | 2 | Mus musculus, Rattus norvegicus | S1655 | LSMVASGLTPK | 1 | Bos taurus | S1655 | ISMVASGLTPK | 1 | Canis lupus familiaris | S1655 | MSLVVSGLTPE | 1 | Macaca mulatta | T1658 | VVSGLTPEEFM | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | T1658 | VVSGLTPKEVM | 2 | Mus musculus, Rattus norvegicus | T1658 | VASGLTPKELM | 1 | Bos taurus | T1658 | VASGLTPKEFM | 1 | Canis lupus familiaris | T1691 | HVVMKTDAEFV | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | T1691 | HVIIKTDAEFV | 2 | Mus musculus, Rattus norvegicus | T1691 | HVIMKTDPEFV | 1 | Bos taurus | T1691 | HVIMKTDAEFV | 1 | Canis lupus familiaris | T1700 | FVCERTLKYFL | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | V1654 | RMSMVVSGLTP | 2 | Homo sapiens, Pan troglodytes | V1654 | DISMVVSGLTP | 2 | Mus musculus, Rattus norvegicus | V1654 | RLSMVASGLTP | 1 | Bos taurus | V1654 | RISMVASGLTP | 1 | Canis lupus familiaris | V1654 | RMSLVVSGLTP | 1 | Macaca mulatta | V1696 | TDAEFVCERTL | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | V1696 | TDPEFVCERTL | 1 | Bos taurus | V1740 | EVRGDVVNGRN | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | V1740 | EVKGDVVTGRN | 1 | Mus musculus | V1740 | EVKGDVVTGSN | 1 | Rattus norvegicus | V1741 | VRGDVVNGRNH | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | V1741 | VKGDVVTGRNH | 1 | Mus musculus | V1741 | VKGDVVTGSNH | 1 | Rattus norvegicus | Y1853 | QELDTYLIPQI | 4 | Homo sapiens, Canis lupus familiaris, Macaca mulatta, Pan troglodytes | Y1853 | RDLDAYLVQNI | 2 | Mus musculus, Rattus norvegicus | Y1853 | QELDTYLVP-- | 1 | Bos taurus |