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 MDM4
Gene summary
Basic gene Info.Gene symbolMDM4
Gene nameMDM4, p53 regulator
CytomapUCSC genome browser: 1q32
Type of geneprotein-coding
DescriptionMDM4 protein variant GMDM4 protein variant YMDM4-related protein 1Mdm4 p53 binding protein homologdouble minute 4, human homolog of; p53-binding proteinmdm2-like p53-binding proteinprotein Mdm4protein Mdmx
Modification date20141207
dbXrefs MIM : 602704
Ensembl : ENSG00000198625
HPRD : 04082
Vega : OTTHUMG00000035877
ProteinUniProt: O15151
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MDM4
BioGPS: 4194
PathwayNCI Pathway Interaction Database: MDM4
Pathway Commons: MDM4
ContextiHOP: MDM4
ligand binding site mutation search in PubMed: MDM4
UCL Cancer Institute: MDM4
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000122negative regulation of transcription from RNA polymerase II promoter9226370
GO:0006461protein complex assembly10608892

Ligand binding site mutations for MDM4
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 MDM4
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 MDM4 from PDB

Differential gene expression and gene-gene network for MDM4
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 MDM4 and the right PPI network was created from samples without mutations in the LBS of MDM4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MDM4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms4AlteredExpression, Biomarker, GeneticVariation

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

Pharmacological information for MDM4
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 MDM4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of MDM4
Multiple alignments for O15151 in multiple species
LBSAA sequence# speciesSpecies
C306EDEWQCTECKK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C306QDAWQCSECRK1Danio rerio
C309WQCTECKKFNS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C309WQCSECRKFNT1Danio rerio
C320PSKRYCFRCWA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C320PLQRYCMRCWA1Danio rerio
C323RYCFRCWALRK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C323RYCMRCWALRK1Danio rerio
C437NLLKPCSLCEK2Homo sapiens, Bos taurus
C437NVLKPCSLCEK2Mus musculus, Rattus norvegicus
C437ALLEPCKLCRV1Danio rerio
C440KPCSLCEKRPR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C440EPCKLCRVRPR1Danio rerio
C460GHLVTCFHCAR2Homo sapiens, Bos taurus
C460SHLTTCFHCAR2Mus musculus, Rattus norvegicus
C460AHLITCFPCAR1Danio rerio
C463VTCFHCARRLK2Homo sapiens, Bos taurus
C463TTCFHCARRLK2Mus musculus, Rattus norvegicus
C463ITCFPCARKLH1Danio rerio
C474KAGASCPICKK2Homo sapiens, Bos taurus
C474KSGASCPACKK2Mus musculus, Rattus norvegicus
C474KFHAPCPGCGQ1Danio rerio
C477ASCPICKKEIQ2Homo sapiens, Bos taurus
C477ASCPACKKEIQ2Mus musculus, Rattus norvegicus
C477APCPGCGQVIQ1Danio rerio
D100PSPLYDMLRKN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D100PSPVYEMLKRN1Danio rerio
E45AGAQGEMFTVK2Homo sapiens, Bos taurus
E45AGAQGEVFTMK2Mus musculus, Rattus norvegicus
E45AGAQEEVFTLK1Danio rerio
E70LYDQQEQHMVY3Homo sapiens, Mus musculus, Bos taurus
E70LYDKQRQHIVH1Danio rerio
E70LYDQQEQHLVY1Rattus norvegicus
F90LGRQSFSVKDP2Homo sapiens, Bos taurus
F90LGCQSFSVKDP2Mus musculus, Rattus norvegicus
F90LEVGSFSVKNP1Danio rerio
G57VMHYLGQYIMV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G57VMHYLGQYIMM1Danio rerio
H451DGNIIHGKTSH2Mus musculus, Rattus norvegicus
H451DGNIIHGRTGH1Homo sapiens
H451NGNIIHGRTAH1Danio rerio
H451NGNIIHGRTGH1Bos taurus
H456HGRTGHLVTCF2Homo sapiens, Bos taurus
H456HGKTSHLTTCF2Mus musculus, Rattus norvegicus
H456HGRTAHLITCF1Danio rerio
H54VKEVMHYLGQY2Homo sapiens, Bos taurus
H54MKEVMHYLGQY2Mus musculus, Rattus norvegicus
H54LKEVMHYLGQY1Danio rerio
H72DQQEQHMVYCG3Homo sapiens, Mus musculus, Bos taurus
H72DKQRQHIVHCH1Danio rerio
H72DQQEQHLVYCG1Rattus norvegicus
I60YLGQYIMVKQL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I60YLGQYIMMKQL1Danio rerio
K50EMFTVKEVMHY2Homo sapiens, Bos taurus
K50EVFTMKEVMHY2Mus musculus, Rattus norvegicus
K50EVFTLKEVMHY1Danio rerio
K93QSFSVKDPSPL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K93GSFSVKNPSPV1Danio rerio
L56EVMHYLGQYIM5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
L98KDPSPLYDMLR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L98KNPSPVYEMLK1Danio rerio
M46GAQGEMFTVKE2Homo sapiens, Bos taurus
M46GAQGEVFTMKE2Mus musculus, Rattus norvegicus
M46GAQEEVFTLKE1Danio rerio
M53TVKEVMHYLGQ2Homo sapiens, Bos taurus
M53TMKEVMHYLGQ2Mus musculus, Rattus norvegicus
M53TLKEVMHYLGQ1Danio rerio
M61LGQYIMVKQLY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
M61LGQYIMMKQLY1Danio rerio
P95FSVKDPSPLYD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
P95FSVKNPSPVYE1Danio rerio
Q43HAAGAQGEMFT1Homo sapiens
Q43KVAGAQEEVFT1Danio rerio
Q43HAAGAQGEVFT1Mus musculus
Q43QAAGAQGEVFT1Rattus norvegicus
Q69QLYDQQEQHMV3Homo sapiens, Mus musculus, Bos taurus
Q69QLYDKQRQHIV1Danio rerio
Q69QLYDQQEQHLV1Rattus norvegicus
Q71YDQQEQHMVYC3Homo sapiens, Mus musculus, Bos taurus
Q71YDKQRQHIVHC1Danio rerio
Q71YDQQEQHLVYC1Rattus norvegicus
R103LYDMLRKNLVT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R103VYEMLKRNLVI1Danio rerio
V27QIN-QVRPKLP1Homo sapiens
V27EGT-QVHPRAP1Danio rerio
V27QIS-QVRPKLQ1Mus musculus
V27QINQQVRPKLQ1Rattus norvegicus
V27QTN-QVRPKLP1Bos taurus
V49GEMFTVKEVMH2Homo sapiens, Bos taurus
V49GEVFTMKEVMH2Mus musculus, Rattus norvegicus
V49EEVFTLKEVMH1Danio rerio
V74QEQHMVYCGGD3Homo sapiens, Mus musculus, Bos taurus
V74QRQHIVHCHDD1Danio rerio
V74QEQHLVYCGGD1Rattus norvegicus
V92RQSFSVKDPSP2Homo sapiens, Bos taurus
V92CQSFSVKDPSP2Mus musculus, Rattus norvegicus
V92VGSFSVKNPSP1Danio rerio
Y55KEVMHYLGQYI5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
Y66MVKQLYDQQEQ4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y66MMKQLYDKQRQ1Danio rerio
Y99DPSPLYDMLRK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y99NPSPVYEMLKR1Danio rerio

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