mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 BAX
Gene summary
Basic gene Info.Gene symbolBAX
Gene nameBCL2-associated X protein
SynonymsBCL2L4
CytomapUCSC genome browser: 19q13.3-q13.4
Type of geneprotein-coding
RefGenesNM_001291428.1,
NM_001291429.1,NM_001291430.1,NM_001291431.1,NM_004324.3,
NM_138761.3,NM_138763.3,NM_138764.4,NR_027882.1,
NM_138762.2,
DescriptionBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegaapoptosis regulator BAXbcl-2-like protein 4bcl2-L-4
Modification date20141222
dbXrefs MIM : 600040
HGNC : HGNC
Ensembl : ENSG00000087088
HPRD : 02498
Vega : OTTHUMG00000160476
ProteinUniProt: Q07812
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BAX
BioGPS: 581
PathwayNCI Pathway Interaction Database: BAX
KEGG: BAX
REACTOME: BAX
Pathway Commons: BAX
ContextiHOP: BAX
ligand binding site mutation search in PubMed: BAX
UCL Cancer Institute: BAX
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0001783B cell apoptotic process15214043
GO:0001836release of cytochrome c from mitochondria16199525
GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process11912183
GO:0008053mitochondrial fusion14769861
GO:0008635activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c15214043
GO:0008637apoptotic mitochondrial changes9843949
GO:0009636response to toxic substance16307838
GO:0010248establishment or maintenance of transmembrane electrochemical gradient9843949
GO:0032091negative regulation of protein binding9388232
GO:0032461positive regulation of protein oligomerization19805544
GO:0032976release of matrix enzymes from mitochondria9843949
GO:0043496regulation of protein homodimerization activity9111042
GO:0043525positive regulation of neuron apoptotic process15637643
GO:0043653mitochondrial fragmentation involved in apoptotic process12499352
GO:0051259protein oligomerization19074440
GO:0051260protein homooligomerization14522999
GO:0051881regulation of mitochondrial membrane potential9843949
GO:0090200positive regulation of release of cytochrome c from mitochondria14963330
GO:0097190apoptotic signaling pathway16424160
GO:0097191extrinsic apoptotic signaling pathway15214043
GO:0097193intrinsic apoptotic signaling pathway16462759
GO:1990117B cell receptor apoptotic signaling pathway15214043


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Ligand binding site mutations for BAX
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
R134I133MCOAD1
M137,L141W139CCOAD1
R89R89QHNSC1
F116S118ILUAD1
R94F93LLUSC1
R89R89QUCEC1
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 BAX
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
R134I133M-1.0907314
R89R89Q-0.94972108
M137W139C-0.69314309
L141W139C-0.69314309
R94F93L-0.44400087
F116S118I-0.17911439
(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 BAX from PDB

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Differential gene expression and gene-gene network for BAX
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 BAX and the right PPI network was created from samples without mutations in the LBS of BAX. 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 BAX
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0699790Colon Carcinoma10Biomarker, GeneticVariation
umls:C0009375Colonic Neoplasms8AlteredExpression, Biomarker
umls:C1458155Breast Neoplasms7AlteredExpression, Biomarker, Therapeutic
umls:C0027051Myocardial Infarction4Biomarker
umls:C0033578Prostatic Neoplasms3Biomarker, PostTranslationalModification
umls:C0002395Alzheimer Disease2Biomarker
umls:C0011853Diabetes Mellitus, Experimental2Biomarker
umls:C0019693HIV Infections2AlteredExpression, Biomarker
umls:C0014859Esophageal Neoplasms1AlteredExpression, Biomarker
umls:C0079773Lymphoma, T-Cell, Cutaneous1Biomarker
umls:C2609414Acute Kidney Injury1Biomarker
umls:C2937358Cerebral Hemorrhage1Biomarker
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C0021841Intestinal Neoplasms1Biomarker
umls:C0022116Ischemia1Biomarker
umls:C0027055Myocardial Reperfusion Injury1Biomarker
umls:C0027746Nerve Degeneration1Therapeutic
umls:C0031117Peripheral Nervous System Diseases1Biomarker
umls:C0032460Polycystic Ovary Syndrome1Biomarker
umls:C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1Biomarker, GeneticVariation

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

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Pharmacological information for BAX
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 BAX go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (PRO,GLU,ILE,TRP,ILE,ALA,GLN,GLU,LEU,ARG,ARG,ILE,GLY,ASP,GLU,PHE)4zifAF116
IIIPeptide ligand (PRO,GLU,ILE,TRP,ILE,ALA,GLN,GLU,LEU,ARG,ARG,ILE,GLY,ASP,GLU,PHE)4zihAF116
IIIPeptide ligand (SER,GLU,SER,GLN,GLU,ASP,ILE,ILE,ARG,ASN,ILE,ALA,ARG,HIS,LEU,ALA,GLN,VAL,GLY,ASP,SER,MET,ASP,ARG)4ziiAF116
IIIPeptide ligand (GLU,ILE,TRP,ILE,ALA,GLN,GLU,LEU,ARG,ARG,ILE,GLY,ASP,GLU,PHE,ASN,ALA,TYR,TYR,ALA)2k7wAR89 R134 M137 L141
IIIPeptide ligand (ALA,SER,THR,LYS,LYS,LEU,SER,GLU,CYS,LEU,LYS,ARG,ILE,GLY,ASP,GLU,LEU,ASP,SER,ASN)4bd6AR94 F116
IIIPeptide ligand (ARG,PRO,GLU,ILE,TRP,ILE,ALA,GLN,GLU,LEU,ARG,ARG,ILE,GLY,ASP,GLU,PHE,ASN,ALA,TYR,TYR,ALA)4zieAR94 F116
IIIPeptide ligand (ACE,GLN,GLU,ASP,ILE,ILE,ARG,ASN,ILE,ALA,ARG,HIS,LEU,ALA,GLN,VAL,GLY,ASP,SER,MET,ASP)4zigAR94 F116


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Conservation information for LBS of BAX
Multiple alignments for Q07812 in multiple species
LBSAA sequence# speciesSpecies
A112WGRVVALFYFA3Homo sapiens, Mus musculus, Bos taurus
A24IMKTGALLLQG2Homo sapiens, Bos taurus
A24IMKTGAFLLQG1Mus musculus
A81LQRMIAAVDTD2Homo sapiens, Bos taurus
A81LQRMIADVDTD1Mus musculus
A82QRMIAAVDTDS2Homo sapiens, Bos taurus
A82QRMIADVDTDS1Mus musculus
D102ADMFSDGNFNW1Homo sapiens
D102ADMFADGNFNW1Mus musculus
D102AEMFSDGNFNW1Bos taurus
D142MGWTLDFLRER3Homo sapiens, Mus musculus, Bos taurus
D53DPVPQDASTKK1Homo sapiens
D53EQPPQDASTKK1Mus musculus
D53EQVPQDASTKK1Bos taurus
D84MIAAVDTDSPR2Homo sapiens, Bos taurus
D84MIADVDTDSPR1Mus musculus
D86AAVDTDSPREV2Homo sapiens, Bos taurus
D86ADVDTDSPREV1Mus musculus
D98FRVAADMFSDG1Homo sapiens
D98FRVAADMFADG1Mus musculus
D98FRVAAEMFSDG1Bos taurus
E131CTKVPELIRTI3Homo sapiens, Mus musculus, Bos taurus
E146LDFLRERLLGW2Homo sapiens, Bos taurus
E146LDFLRERLLVW1Mus musculus
E75LDSNMELQRMI3Homo sapiens, Mus musculus, Bos taurus
F116VALFYFASKLV3Homo sapiens, Mus musculus, Bos taurus
G108GNFNWGRVVAL3Homo sapiens, Mus musculus, Bos taurus
I66ECLKRIGDELD2Homo sapiens, Bos taurus
I66ECLRRIGDELD1Mus musculus
I80ELQRMIAAVDT2Homo sapiens, Bos taurus
I80ELQRMIADVDT1Mus musculus
K21SEQIMKTGALL2Homo sapiens, Bos taurus
K21SEQIMKTGAFL1Mus musculus
L141IMGWTLDFLRE3Homo sapiens, Mus musculus, Bos taurus
L25MKTGALLLQGF2Homo sapiens, Bos taurus
L25MKTGAFLLQGF1Mus musculus
L47APELALDPVPQ1Homo sapiens
L47TPELTLEQPPQ1Mus musculus
L47TPELGLEQVPQ1Bos taurus
L70RIGDELDSNME3Homo sapiens, Mus musculus, Bos taurus
L76DSNMELQRMIA3Homo sapiens, Mus musculus, Bos taurus
M137LIRTIMGWTLD3Homo sapiens, Mus musculus, Bos taurus
M20SSEQIMKTGAL2Homo sapiens, Bos taurus
M20SSEQIMKTGAF1Mus musculus
M79MELQRMIAAVD2Homo sapiens, Bos taurus
M79MELQRMIADVD1Mus musculus
M99RVAADMFSDGN1Homo sapiens
M99RVAADMFADGN1Mus musculus
M99RVAAEMFSDGN1Bos taurus
N106SDGNFNWGRVV2Homo sapiens, Bos taurus
N106ADGNFNWGRVV1Mus musculus
N73DELDSNMELQR3Homo sapiens, Mus musculus, Bos taurus
P49ELALDPVPQDA1Homo sapiens
P49ELTLEQPPQDA1Mus musculus
P49ELGLEQVPQDA1Bos taurus
P51ALDPVPQDAST1Homo sapiens
P51TLEQPPQDAST1Mus musculus
P51GLEQVPQDAST1Bos taurus
Q28GALLLQGFIQD2Homo sapiens, Bos taurus
Q28GAFLLQGFIQD1Mus musculus
Q32LQGFIQDRAGR3Homo sapiens, Mus musculus, Bos taurus
Q52LDPVPQDASTK1Homo sapiens
Q52LEQPPQDASTK1Mus musculus
Q52LEQVPQDASTK1Bos taurus
R109NFNWGRVVALF3Homo sapiens, Mus musculus, Bos taurus
R134VPELIRTIMGW3Homo sapiens, Mus musculus, Bos taurus
R145TLDFLRERLLG2Homo sapiens, Bos taurus
R145TLDFLRERLLV1Mus musculus
R89DTDSPREVFFR3Homo sapiens, Mus musculus, Bos taurus
R94REVFFRVAADM2Homo sapiens, Mus musculus
R94REVFFRVAAEM1Bos taurus
S101AADMFSDGNFN1Homo sapiens
S101AADMFADGNFN1Mus musculus
S101AAEMFSDGNFN1Bos taurus
T135PELIRTIMGWT3Homo sapiens, Mus musculus, Bos taurus
T85IAAVDTDSPRE2Homo sapiens, Bos taurus
T85IADVDTDSPRE1Mus musculus
V111NWGRVVALFYF3Homo sapiens, Mus musculus, Bos taurus
V83RMIAAVDTDSP2Homo sapiens, Bos taurus
V83RMIADVDTDSP1Mus musculus
V91DSPREVFFRVA3Homo sapiens, Mus musculus, Bos taurus
V95EVFFRVAADMF2Homo sapiens, Mus musculus
V95EVFFRVAAEMF1Bos taurus


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