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 BCL2L1
Gene summary
Basic gene Info.Gene symbolBCL2L1
Gene nameBCL2-like 1
SynonymsBCL-XL/S|BCL2L|BCLX|BCLXL|BCLXS|Bcl-X|PPP1R52|bcl-xL|bcl-xS
CytomapUCSC genome browser: 20q11.21
Type of geneprotein-coding
RefGenesNM_001191.2,
NM_138578.1,
Descriptionapoptosis regulator Bcl-Xbcl-2-like protein 1protein phosphatase 1, regulatory subunit 52
Modification date20141207
dbXrefs MIM : 600039
HGNC : HGNC
Ensembl : ENSG00000171552
HPRD : 02497
Vega : OTTHUMG00000032192
ProteinUniProt: Q07817
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BCL2L1
BioGPS: 598
PathwayNCI Pathway Interaction Database: BCL2L1
KEGG: BCL2L1
REACTOME: BCL2L1
Pathway Commons: BCL2L1
ContextiHOP: BCL2L1
ligand binding site mutation search in PubMed: BCL2L1
UCL Cancer Institute: BCL2L1
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:0001836release of cytochrome c from mitochondria9843949
GO:0019050suppression by virus of host apoptotic process15231831
GO:0034097response to cytokine9184696
GO:0043066negative regulation of apoptotic process21567405
GO:0046902regulation of mitochondrial membrane permeability9843949
GO:0051881regulation of mitochondrial membrane potential9843949
GO:0090005negative regulation of establishment of protein localization to plasma membrane21041309
GO:0090201negative regulation of release of cytochrome c from mitochondria12667443
GO:1900118negative regulation of execution phase of apoptosis20673843
GO:1902230negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage16608847
GO:2001243negative regulation of intrinsic apoptotic signaling pathway12011449


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Ligand binding site mutations for BCL2L1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A149A149EBLCA1
N198N198SUCEC1
H177N175TUCEC1
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 BCL2L1
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
N198N198S0.01295179
H177N175T-0.74734577
A149A149E-0.59937123
(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 BCL2L1 from PDB

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Differential gene expression and gene-gene network for BCL2L1
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 BCL2L1 and the right PPI network was created from samples without mutations in the LBS of BCL2L1. 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 BCL2L1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular15AlteredExpression, Biomarker, Therapeutic
umls:C0007097Carcinoma10AlteredExpression, Biomarker
umls:C0026764Multiple Myeloma9Biomarker
umls:C0024121Lung Neoplasms4AlteredExpression, Biomarker
umls:C0001430Adenoma3Biomarker
umls:C0011853Diabetes Mellitus, Experimental2Biomarker
umls:C0027051Myocardial Infarction2Biomarker
umls:C0018671Head and Neck Neoplasms2Biomarker
umls:C0023895Liver Diseases2Biomarker
umls:C0242350Erectile Dysfunction1Biomarker
umls:C1862939Amyotrophic lateral sclerosis 11Biomarker
umls:C2937358Cerebral Hemorrhage1Biomarker
umls:C0011860Diabetes Mellitus, Type 21Biomarker
umls:C1384666Hearing Loss1Therapeutic
umls:C0023904Liver Neoplasms, Experimental1Biomarker
umls:C0235032Neurotoxicity Syndromes1Biomarker
umls:C0030297Pancreatic Neoplasms1Biomarker

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

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Pharmacological information for BCL2L1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB071084'-FLUORO-1,1'-BIPHENYL-4-CARBOXYLIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BCL2L1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
B504-(4-CHLOROPHENYL)-1-[(3S)-3,4-DIHYDROXYBUTYL]-N-[3-(4- METHYLPIPERAZIN-1-YL)PROPYL]-3-PHENYL-1H-PYRROLE-2- CARBOXAMIDE3spfAA149
H1IN-(3-(5-(1-(2-(BENZO[D]THIAZOL-2-YL) HYDRAZONO)ETHYL)FURAN-2-YL)PHENYLSULFONYL)-6- PHENYLHEXANAMIDE3zk6BA149
H0Y6-[(8E)-8-(1,3-BENZOTHIAZOL-2- YLHYDRAZINYLIDENE)-6,7-DIHYDRO-5H-NAPHTHALEN-2-YL]PYRI 2-CARBOXYLIC ACID3zlnAA149
X8U2-[(8E)-8-(1,3-BENZOTHIAZOL-2- YLHYDRAZINYLIDENE)-6,7-DIHYDRO-5H-NAPHTHALEN-2-YL]-5-( PHENYLBUTYL)-1,3-THIAZOLE-4-CARBOXYLIC ACID3zloAA149
X0B5-[3-[4-(AMINOMETHYL)PHENOXY]PROPYL]-2-[(8E)- 8-(1,3-BENZOTHIAZOL-2-YLHYDRAZINYLIDENE)-6,7- DIHYDRO-5H-NAPHTHALEN-2-YL]-1,3-THIAZOLE-4- CARBOXYLIC ACID3zlrAA149
X0B5-[3-[4-(AMINOMETHYL)PHENOXY]PROPYL]-2-[(8E)- 8-(1,3-BENZOTHIAZOL-2-YLHYDRAZINYLIDENE)-6,7- DIHYDRO-5H-NAPHTHALEN-2-YL]-1,3-THIAZOLE-4- CARBOXYLIC ACID3zlrBA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhAA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhBA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhCA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhDA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhEA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhFA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhGA149
38H2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-{3-[4-(1H-PYRAZOLO[3,4- D]PYRIMIDIN-1-YL)PHENOXY]PROPYL}-1,3-THIAZOLE-4- CARBOXYLIC ACID4tuhHA149
3CQ2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-(3-{4-[3- (DIMETHYLAMINO)PROP-1-YN-1-YL]-2- FLUOROPHENOXY}PROPYL)-1,3-THIAZOLE-4-CARBOXYLIC ACID4qvxAA149
3CQ2-[8-(1,3-BENZOTHIAZOL-2-YLCARBAMOYL)-3,4- DIHYDROISOQUINOLIN-2(1H)-YL]-5-(3-{4-[3- (DIMETHYLAMINO)PROP-1-YN-1-YL]-2- FLUOROPHENOXY}PROPYL)-1,3-THIAZOLE-4-CARBOXYLIC ACID4qvxBA149
03B5-(4-CHLOROPHENYL)-4-{3-[4-(4-{[(4-{[(2R)-4- (DIMETHYLAMINO)-1-(PHENYLSULFANYL)BUTAN-2-YL]AMINO}-3- NITROPHENYL)SULFONYL]AMINO}PHENYL)PIPERAZIN-1- YL]PHENYL}-1,2-DIMETHYL-1H-PYRROLE-3-CARBOXYLIC ACID3sp7AA149 N198
ZNZINC(2+)3sp7AH177
IIIPeptide ligand (TRP,ALA,ARG,GLU,ILE,GLY,ALA,GLN,LEU,ARG,ARG,MET,ALA,ASP,ASP,LEU,ASN,ALA,GLN,TYR,GLU,NH2)2yj1AN198
IIIPeptide ligand (XPC,ALA,XCP,ARG,XCP,LEU,XCP,LYS,B3L,GLY,ASP,ALA,PHE,ASN,ARG,NH2)3fdmAN198


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Conservation information for LBS of BCL2L1
Multiple alignments for Q07817 in multiple species
LBSAA sequence# speciesSpecies
A104LRYRRAFSDLT4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
A142WGRIVAFFSFG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
A149FSFGGALCVES4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
A199LYGNNAAAESR3Homo sapiens, Mus musculus, Rattus norvegicus
A199LYGNNAAAELR1Gallus gallus
A200YGNNAAAESRK3Homo sapiens, Mus musculus, Rattus norvegicus
A200YGNNAAAELRK1Gallus gallus
A201GNNAAAESRKG3Homo sapiens, Mus musculus, Rattus norvegicus
A201GNNAAAELRKG1Gallus gallus
A37ENRTEAPEETE2Mus musculus, Rattus norvegicus
A37ENRTEAPEGTE1Homo sapiens
A37ENRTD----TA1Gallus gallus
A93QALREAGDEFE3Homo sapiens, Mus musculus, Rattus norvegicus
A93QALRDAGDEFE1Gallus gallus
D107RRAFSDLTSQL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D11RELVVDFLSYK3Homo sapiens, Mus musculus, Rattus norvegicus
D11RELVIDFVSYK1Gallus gallus
D133NELFRDGVNWG3Homo sapiens, Mus musculus, Rattus norvegicus
D133NELFHDGVNWG1Gallus gallus
D189ENGGWDTFVDL2Mus musculus, Rattus norvegicus
D189ENGGWDTFVEL1Homo sapiens
D189ENGGWERFVDL1Gallus gallus
E124AYQSFEQVVNE4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
E129EQVVNELFRDG3Homo sapiens, Mus musculus, Rattus norvegicus
E129EQVVNELFHDG1Gallus gallus
E193WDTFVDLYGNN2Mus musculus, Rattus norvegicus
E193WDTFVELYGNN1Homo sapiens
E193WERFVDLYGNN1Gallus gallus
E7SQSNRELVVDF3Homo sapiens, Mus musculus, Rattus norvegicus
E7SSSNRELVIDF1Gallus gallus
E96REAGDEFELRY3Homo sapiens, Mus musculus, Rattus norvegicus
E96RDAGDEFELRY1Gallus gallus
E98AGDEFELRYRR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
F105RYRRAFSDLTS4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
F143GRIVAFFSFGG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
F146VAFFSFGGALC4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
F191GGWDTFVDLYG2Mus musculus, Rattus norvegicus
F191GGWDTFVELYG1Homo sapiens
F191GGWERFVDLYG1Gallus gallus
F97EAGDEFELRYR3Homo sapiens, Mus musculus, Rattus norvegicus
F97DAGDEFELRYR1Gallus gallus
G134ELFRDGVNWGR3Homo sapiens, Mus musculus, Rattus norvegicus
G134ELFHDGVNWGR1Gallus gallus
G138DGVNWGRIVAF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G186WIQENGGWDTF3Homo sapiens, Mus musculus, Rattus norvegicus
G186WIQENGGWERF1Gallus gallus
H113LTSQLHITPGT4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
H177TYLNDHLEPWI3Homo sapiens, Mus musculus, Rattus norvegicus
H177TYLTDHLDPWI1Gallus gallus
I114TSQLHITPGTA4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
L108RAFSDLTSQLH4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
L112DLTSQLHITPG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
L130QVVNELFRDGV3Homo sapiens, Mus musculus, Rattus norvegicus
L130QVVNELFHDGV1Gallus gallus
L150SFGGALCVESV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
L194DTFVDLYGNNA2Mus musculus, Rattus norvegicus
L194DTFVELYGNNA1Homo sapiens
L194ERFVDLYGNNA1Gallus gallus
L8QSNRELVVDFL3Homo sapiens, Mus musculus, Rattus norvegicus
L8SSNRELVIDFV1Gallus gallus
L99GDEFELRYRRA4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
N136FRDGVNWGRIV3Homo sapiens, Mus musculus, Rattus norvegicus
N136FHDGVNWGRIV1Gallus gallus
N185PWIQENGGWDT3Homo sapiens, Mus musculus, Rattus norvegicus
N185PWIQENGGWER1Gallus gallus
N198DLYGNNAAAES2Mus musculus, Rattus norvegicus
N198ELYGNNAAAES1Homo sapiens
N198DLYGNNAAAEL1Gallus gallus
N54Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Q111SDLTSQLHITP4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Q121PGTAYQSFEQV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Q125YQSFEQVVNEL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R100DEFELRYRRAF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R102FELRYRRAFSD4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R103ELRYRRAFSDL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R132VNELFRDGVNW3Homo sapiens, Mus musculus, Rattus norvegicus
R132VNELFHDGVNW1Gallus gallus
R139GVNWGRIVAFF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S106YRRAFSDLTSQ4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S110FSDLTSQLHIT4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S122GTAYQSFEQVV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S145IVAFFSFGGAL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S203NAAAESRKGQE3Homo sapiens, Mus musculus, Rattus norvegicus
S203NAAAELRKGQE1Gallus gallus
T109AFSDLTSQLHI4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T118HITPGTAYQSF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T190NGGWDTFVDLY2Mus musculus, Rattus norvegicus
T190NGGWDTFVELY1Homo sapiens
T190NGGWERFVDLY1Gallus gallus
V126QSFEQVVNELF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
V135LFRDGVNWGRI3Homo sapiens, Mus musculus, Rattus norvegicus
V135LFHDGVNWGRI1Gallus gallus
V141NWGRIVAFFSF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
W137RDGVNWGRIVA3Homo sapiens, Mus musculus, Rattus norvegicus
W137HDGVNWGRIVA1Gallus gallus
Y101EFELRYRRAFS4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y195TFVDLYGNNAA2Mus musculus, Rattus norvegicus
Y195TFVELYGNNAA1Homo sapiens
Y195RFVDLYGNNAA1Gallus gallus


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