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 MX1
Gene summary
Basic gene Info.Gene symbolMX1
Gene nameMX dynamin-like GTPase 1
SynonymsIFI-78K|IFI78|MX|MxA
CytomapUCSC genome browser: 21q22.3
Type of geneprotein-coding
RefGenesNM_001144925.2,
NM_001178046.2,NM_001282920.1,NM_002462.4,
Descriptioninterferon-induced GTP-binding protein Mx1interferon-induced protein p78interferon-inducible protein p78interferon-regulated resistance GTP-binding protein MxAmyxoma resistance protein 1myxovirus (influenza virus) resistance 1, interferon-inducible p
Modification date20141222
dbXrefs MIM : 147150
HGNC : HGNC
Ensembl : ENSG00000157601
HPRD : 00919
Vega : OTTHUMG00000086755
ProteinUniProt: P20591
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MX1
BioGPS: 4599
PathwayNCI Pathway Interaction Database: MX1
KEGG: MX1
REACTOME: MX1
Pathway Commons: MX1
ContextiHOP: MX1
ligand binding site mutation search in PubMed: MX1
UCL Cancer Institute: MX1
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:0045071negative regulation of viral genome replication14687945


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Ligand binding site mutations for MX1
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
R281R281LLUAD1
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 MX1
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
R281R281L-0.34746768
(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 MX1 from PDB

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Differential gene expression and gene-gene network for MX1
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 MX1 and the right PPI network was created from samples without mutations in the LBS of MX1. 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 MX1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0021400Influenza, Human14Biomarker
umls:C0015625Fanconi Anemia1Biomarker
umls:C0016627Influenza in Birds1Therapeutic
umls:C0023467Leukemia, Myeloid, Acute1Biomarker
umls:C0151744Myocardial Ischemia1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker

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

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Pharmacological information for MX1
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 MX1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GDPGUANOSINE-5'-DIPHOSPHATE4p4tAR281


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Conservation information for LBS of MX1
Multiple alignments for P20591 in multiple species
LBSAA sequence# speciesSpecies
C280YMIVKCRGQQE2Homo sapiens, Macaca mulatta
C280YMIVKCRGQQD2Bos taurus, Canis lupus familiaris
C280YVCVRNRIGEE1Arabidopsis thaliana
D250ILTKPDLVDKG3Homo sapiens, Bos taurus, Macaca mulatta
D250VVTKADMAPEG1Arabidopsis thaliana
D250ILTKPDLVDRG1Canis lupus familiaris
G282IVKCRGQQEIQ2Homo sapiens, Macaca mulatta
G282CVRNRIGEE--1Arabidopsis thaliana
G282IVKCRGQQDIK1Bos taurus
G282IVKCRGQQDIQ1Canis lupus familiaris
G82GDQSSGKSSVL5Homo sapiens, Arabidopsis thaliana, Bos taurus, Canis lupus familiaris, Macaca mulatta
I286RGQQEIQDQLS2Homo sapiens, Macaca mulatta
I286RIGEE-----T1Arabidopsis thaliana
I286RGQQDIKHRMS1Bos taurus
I286RGQQDIQDQVS1Canis lupus familiaris
K248IGILTKPDLVD4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
K248LAVVTKADMAP1Arabidopsis thaliana
K279GYMIVKCRGQQ4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
K279GYVCVRNRIGE1Arabidopsis thaliana
K83DQSSGKSSVLE5Homo sapiens, Arabidopsis thaliana, Bos taurus, Canis lupus familiaris, Macaca mulatta
L251LTKPDLVDKGT3Homo sapiens, Bos taurus, Macaca mulatta
L251VTKADMAPEGL1Arabidopsis thaliana
L251LTKPDLVDRGT1Canis lupus familiaris
P96SGVALPRGSGI4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
P96AGISLPRGQGI1Arabidopsis thaliana
Q283VKCRGQQEIQD2Homo sapiens, Macaca mulatta
Q283VRNRIGEE---1Arabidopsis thaliana
Q283VKCRGQQDIKH1Bos taurus
Q283VKCRGQQDIQD1Canis lupus familiaris
R281MIVKCRGQQEI2Homo sapiens, Macaca mulatta
R281MIVKCRGQQDI2Bos taurus, Canis lupus familiaris
R281VCVRNRIGEE-1Arabidopsis thaliana
S80VIGDQSSGKSS4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
S80VVGDQSSGKSS1Arabidopsis thaliana
S81IGDQSSGKSSV4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
S81VGDQSSGKSSV1Arabidopsis thaliana
S84QSSGKSSVLEA4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
S84QSSGKSSVLES1Arabidopsis thaliana
S85SSGKSSVLEAL4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
S85SSGKSSVLESL1Arabidopsis thaliana
T103GSGIVTRCPLV4Homo sapiens, Bos taurus, Canis lupus familiaris, Macaca mulatta
T103GQGICTRVPLV1Arabidopsis thaliana


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