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 XPO1
Gene summary
Basic gene Info.Gene symbolXPO1
Gene nameexportin 1
SynonymsCRM1|emb|exp1
CytomapUCSC genome browser: 2p15
Type of geneprotein-coding
RefGenesNM_003400.3,
DescriptionCRM1, yeast, homologchromosome region maintenance 1 homologchromosome region maintenance 1 protein homologexportin 1 (CRM1 homolog, yeast)exportin-1exportin-1 (required for chromosome region maintenance)
Modification date20141222
dbXrefs MIM : 602559
HGNC : HGNC
Ensembl : ENSG00000082898
HPRD : 03975
Vega : OTTHUMG00000152316
ProteinUniProt: O14980
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_XPO1
BioGPS: 7514
PathwayNCI Pathway Interaction Database: XPO1
KEGG: XPO1
REACTOME: XPO1
Pathway Commons: XPO1
ContextiHOP: XPO1
ligand binding site mutation search in PubMed: XPO1
UCL Cancer Institute: XPO1
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


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Ligand binding site mutations for XPO1
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
F572E571KUCEC3
F572E571KBRCA2
F572E571KCOAD1
K537N536THNSC1
K514D512GSTAD1
F554R553CUCEC1
K522D523AUCEC1
W491K492RUCEC1
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.

Clinical information for XPO1 from My Cancer Genome.
Exportin 1 (XPO1) is a gene that encodes a protein that medicates leucine-rich nuclear export signal-dependent proteintransport and inhibits nuclear export of specific molecules. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer. Modified: July 1, 2015

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Protein structure related information for XPO1
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
K537N536T-1.1580847
F572E571K-1.1331781
K514D512G-0.98776913
K522D523A-0.62817361
F554R553C-0.58679368
W491K492R-0.13834117
(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 XPO1 from PDB
PDB IDPDB titlePDB structure
4FGVCrystal structure of free CRM1 (crystal form 1)

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Differential gene expression and gene-gene network for XPO1
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 XPO1 and the right PPI network was created from samples without mutations in the LBS of XPO1. 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 XPO1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for XPO1
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 XPO1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (GLY,SER,ALA,SER,GLY,ASN,LEU,ASN,GLU,LEU,ALA,LEU,LYS,LEU,ALA,GLY,LEU,ASP,ILE,ASN,LYS,THR,GLU,GLY,GLU,GLU,CYS)2l1lBK514 K522 K537 F554 F572
MALMALTOSE5disAW491


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Conservation information for LBS of XPO1
Multiple alignments for O14980 in multiple species
LBSAA sequence# speciesSpecies
A538GKDNKAIIASN4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
A538GKDNKAVIASN2Arabidopsis thaliana, Arabidopsis thaliana
A538GKDNKAVVASD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A538GKDNKAVVASN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A541NKAIIASNIMY4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
A541NKAVIASNIMY2Arabidopsis thaliana, Arabidopsis thaliana
A541NKAVVASDIMY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A541NKAVVASNIMY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C528DLLGLCEQKRG3Homo sapiens, Mus musculus, Rattus norvegicus
C528DLLSLCEVVKG1Arabidopsis thaliana
C528DLLNLCEITKG1Arabidopsis thaliana
C528DLLGLCEQKKG1Drosophila melanogaster
C528DLLDLTVKKRG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C528DLLGLCEMKRG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E529LLGLCEQKRGK3Homo sapiens, Mus musculus, Rattus norvegicus
E529LLSLCEVVKGK1Arabidopsis thaliana
E529LLNLCEITKGK1Arabidopsis thaliana
E529LLGLCEQKKGK1Drosophila melanogaster
E529LLDLTVKKRGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E529LLGLCEMKRGK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E575FEFMHETHDGV4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
E575FEFMHETHPGV2Arabidopsis thaliana, Arabidopsis thaliana
E575FEFMHETHEGV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E575FEFMHEYHEGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F554GQYPRFLRAHW5Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus
F554GQYPRFLKAHW2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F554GQYSRFLRAHW1Arabidopsis thaliana
F561RAHWKFLKTVV6Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus
F561KAHWNFLRTVI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F561KAHWKFLKTVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F572NKLFEFMHETH5Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus
F572HKLFEFMHETH1Arabidopsis thaliana
F572LKLFEFMHETH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F572NKLFEFMHEYH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H558RFLRAHWKFLK6Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus
H558RFLKAHWNFLR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H558RFLKAHWKFLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H577FMHETHDGVQD4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
H577FMHETHPGVQD2Arabidopsis thaliana, Arabidopsis thaliana
H577FMHETHEGVQD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H577FMHEYHEGVQD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I544IIASNIMYIVG3Homo sapiens, Mus musculus, Rattus norvegicus
I544VIASNIMYVVG2Arabidopsis thaliana, Arabidopsis thaliana
I544IIASNIMYVVG1Drosophila melanogaster
I544VVASDIMYVVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I544VVASNIMYVVG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K514HEEDEKRFLVT3Homo sapiens, Mus musculus, Rattus norvegicus
K514VVEQENRFLVM1Arabidopsis thaliana
K514AEDQENRFLVM1Arabidopsis thaliana
K514CEEDEKRFLVT1Drosophila melanogaster
K514SEDTEKRFVVT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K514NEEMEKRFLVN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K522LVTVIKDLLGL4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
K522LVMVIRDLLSL1Arabidopsis thaliana
K522LVMVIRDLLNL1Arabidopsis thaliana
K522VVTVIKDLLDL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K522LVNVIKDLLGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K534EQKRGKDNKAI3Homo sapiens, Mus musculus, Rattus norvegicus
K534EVVKGKDNKAV1Arabidopsis thaliana
K534EITKGKDNKAV1Arabidopsis thaliana
K534EQKKGKDNKAI1Drosophila melanogaster
K534VKKRGKDNKAV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K534EMKRGKDNKAV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K537RGKDNKAIIAS3Homo sapiens, Mus musculus, Rattus norvegicus
K537KGKDNKAVIAS2Arabidopsis thaliana, Arabidopsis thaliana
K537RGKDNKAVVAS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K537KGKDNKAIIAS1Drosophila melanogaster
K560LRAHWKFLKTV6Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus
K560LKAHWNFLRTV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K560LKAHWKFLKTV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K568KTVVNKLFEFM6Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K568KTVVHKLFEFM1Arabidopsis thaliana
K568RTVILKLFEFM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L525VIKDLLGLCEQ4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
L525VIRDLLSLCEV1Arabidopsis thaliana
L525VIRDLLNLCEI1Arabidopsis thaliana
L525VIKDLLDLTVK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L525VIKDLLGLCEM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N495SWKNLNTLCWA4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
N495AWNNLNTLCWA2Arabidopsis thaliana, Arabidopsis thaliana
N495SWHNINTLSWA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N495SWQNLNTLCWA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S490NGTEWSWKNLN3Homo sapiens, Mus musculus, Rattus norvegicus
S490SGEEWAWNNLN2Arabidopsis thaliana, Arabidopsis thaliana
S490NGSEFSWKNLN1Drosophila melanogaster
S490DGSEWSWHNIN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S490VGTEWSWQNLN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S542KAIIASNIMYI3Homo sapiens, Mus musculus, Rattus norvegicus
S542KAVIASNIMYV2Arabidopsis thaliana, Arabidopsis thaliana
S542KAIIASNIMYV1Drosophila melanogaster
S542KAVVASDIMYV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S542KAVVASNIMYV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T564WKFLKTVVNKL6Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T564WKFLKTVVHKL1Arabidopsis thaliana
T564WNFLRTVILKL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T576EFMHETHDGVQ4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
T576EFMHETHPGVQ2Arabidopsis thaliana, Arabidopsis thaliana
T576EFMHETHEGVQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T576EFMHEYHEGVQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V518EKRFLVTVIKD4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
V518ENRFLVMVIRD2Arabidopsis thaliana, Arabidopsis thaliana
V518EKRFVVTVIKD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V518EKRFLVNVIKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V565KFLKTVVNKLF6Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V565KFLKTVVHKLF1Arabidopsis thaliana
V565NFLRTVILKLF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V580ETHDGVQDMAC4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
V580ETHPGVQDMAC2Arabidopsis thaliana, Arabidopsis thaliana
V580ETHEGVQDMAC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V580EYHEGVQDMAC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W491GTEWSWKNLNT3Homo sapiens, Mus musculus, Rattus norvegicus
W491GEEWAWNNLNT2Arabidopsis thaliana, Arabidopsis thaliana
W491GSEFSWKNLNT1Drosophila melanogaster
W491GSEWSWHNINT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W491GTEWSWQNLNT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W499LNTLCWAIGSI7Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W499INTLSWAIGSI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)


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