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 EXO1
Gene summary
Basic gene Info.Gene symbolEXO1
Gene nameexonuclease 1
SynonymsHEX1|hExoI
CytomapUCSC genome browser: 1q42-q43
Type of geneprotein-coding
RefGenesNM_003686.4,
NM_006027.4,NM_130398.3,
DescriptionhExo1rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1
Modification date20141207
dbXrefs MIM : 606063
HGNC : HGNC
Ensembl : ENSG00000174371
HPRD : 06932
Vega : OTTHUMG00000039965
ProteinUniProt: Q9UQ84
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EXO1
BioGPS: 9156
PathwayNCI Pathway Interaction Database: EXO1
KEGG: EXO1
REACTOME: EXO1
Pathway Commons: EXO1
ContextiHOP: EXO1
ligand binding site mutation search in PubMed: EXO1
UCL Cancer Institute: EXO1
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:0000737DNA catabolic process, endonucleolytic10608837
GO:0000738DNA catabolic process, exonucleolytic10608837
GO:0006298mismatch repair14636568


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Ligand binding site mutations for EXO1
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
R121R121PLUAD1
Q8I10MLUAD1
R96A98TOV1
D30,Y32T31ASTAD1
D152A151VSTAD1
K237A238SUCEC1
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 EXO1
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
D30T31A-1.5710203
Y32T31A-1.5710203
Q8I10M-1.0498495
K237A238S-0.87123861
R121R121P-0.75637435
D152A151V-0.64596158
R96A98T-0.28982653
(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 EXO1 from PDB

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Differential gene expression and gene-gene network for EXO1
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 EXO1 and the right PPI network was created from samples without mutations in the LBS of EXO1. 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 EXO1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009404Colorectal Neoplasms4Biomarker, GeneticVariation
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

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Pharmacological information for EXO1
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 EXO1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MNMANGANESE(2+)3qebZD152
MNMANGANESE(2+)3qebZD30 D152
NUCNucleic Acids3qebZK237
NUCNucleic Acids3qe9YQ8 Y32 R121
NUCNucleic Acids3qe9ZQ8 Y32 R121
NUCNucleic Acids3qe9YR121 K237
NUCNucleic Acids3qe9ZR121 K237
NUCNucleic Acids3qeaZR121 K237
NUCNucleic Acids3qebZY32 D152
NUCNucleic Acids3qeaZY32 R96


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Conservation information for LBS of EXO1
Multiple alignments for Q9UQ84 in multiple species
LBSAA sequence# speciesSpecies
A236RGIGLAKACKV2Homo sapiens, Mus musculus
A236YGIGLGKACKL1Danio rerio
A41HKGAIACAEKL2Homo sapiens, Mus musculus
A41HKGAFSCAEKL1Danio rerio
D152APYEADAQLAY2Homo sapiens, Mus musculus
D152APYEADAQLAF1Danio rerio
D171AVITEDSDLLA2Danio rerio, Mus musculus
D171AIITEDSDLLA1Homo sapiens
D173ITEDSDLLAFG3Homo sapiens, Danio rerio, Mus musculus
D225ILSGCDYLSSL1Homo sapiens
D225ILSGCDYLQSL1Danio rerio
D225ILSGCDYLASL1Mus musculus
D30QVVAVDTYCWL1Homo sapiens
D30QTVAVDTYCWL1Danio rerio
D30QAVAVDTYCWL1Mus musculus
E170QAVITEDSDLL2Danio rerio, Mus musculus
E170QAIITEDSDLL1Homo sapiens
F58DRYVGFCMKFV2Homo sapiens, Mus musculus
F58DQYVSYCMKFV1Danio rerio
G232LSSLRGIGLAK1Homo sapiens
G232LQSLYGIGLGK1Danio rerio
G232LASLRGIGLAK1Mus musculus
G234SLRGIGLAKAC2Homo sapiens, Mus musculus
G234SLYGIGLGKAC1Danio rerio
H36TYCWLHKGAIA2Homo sapiens, Mus musculus
H36TYCWLHKGAFS1Danio rerio
I233SSLRGIGLAKA1Homo sapiens
I233QSLYGIGLGKA1Danio rerio
I233ASLRGIGLAKA1Mus musculus
I40LHKGAIACAEK2Homo sapiens, Mus musculus
I40LHKGAFSCAEK1Danio rerio
K185KKVILKMDQFG2Homo sapiens, Mus musculus
K185KKVILKMDKQG1Danio rerio
K237GIGLAKACKVL2Homo sapiens, Mus musculus
K237GIGLGKACKLL1Danio rerio
K37YCWLHKGAIAC2Homo sapiens, Mus musculus
K37YCWLHKGAFSC1Danio rerio
K85CTLPSKKEVER2Homo sapiens, Mus musculus
K85RNLPSKQEVEK1Danio rerio
L235LRGIGLAKACK2Homo sapiens, Mus musculus
L235LYGIGLGKACK1Danio rerio
L7GIQGLLQFIKE1Homo sapiens
L7GIQGLLQFIKD1Danio rerio
L7GIQGLLQFIQE1Mus musculus
Q43Homo sapiens, Danio rerio, Mus musculus
Q8IQGLLQFIKEA1Homo sapiens
Q8IQGLLQFIKDA1Danio rerio
Q8IQGLLQFIQEA1Mus musculus
R121RECFTRSINIT1Homo sapiens
R121RECFTRSVNIT1Danio rerio
R121RDCFARSINIT1Mus musculus
R231YLSSLRGIGLA1Homo sapiens
R231YLQSLYGIGLG1Danio rerio
R231YLASLRGIGLA1Mus musculus
R92EVERSRRERRQ2Homo sapiens, Mus musculus
R92EVEKSRRERRQ1Danio rerio
R95RSRRERRQANL1Homo sapiens
R95KSRRERRQANL1Danio rerio
R95RSRRERRQSNL1Mus musculus
R96SRRERRQANLL1Homo sapiens
R96SRRERRQANLQ1Danio rerio
R96SRRERRQSNLL1Mus musculus
S172VITEDSDLLAF2Danio rerio, Mus musculus
S172IITEDSDLLAF1Homo sapiens
T120ARECFTRSINI1Homo sapiens
T120ARECFTRSVNI1Danio rerio
T120ARDCFARSINI1Mus musculus
Y32VAVDTYCWLHK3Homo sapiens, Danio rerio, Mus musculus


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