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 TNPO1
Gene summary
Basic gene Info.Gene symbolTNPO1
Gene nametransportin 1
SynonymsIPO2|KPNB2|MIP|MIP1|TRN
CytomapUCSC genome browser: 5q13.2
Type of geneprotein-coding
RefGenesNM_002270.3,
NM_153188.2,
DescriptionM9 region interaction proteinimportin 2importin beta 2importin beta-2karyopherin (importin) beta 2karyopherin beta-2transportin-1
Modification date20141207
dbXrefs MIM : 602901
HGNC : HGNC
HPRD : 04210
ProteinUniProt: Q92973
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TNPO1
BioGPS: 3842
PathwayNCI Pathway Interaction Database: TNPO1
KEGG: TNPO1
REACTOME: TNPO1
Pathway Commons: TNPO1
ContextiHOP: TNPO1
ligand binding site mutation search in PubMed: TNPO1
UCL Cancer Institute: TNPO1
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 TNPO1
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
I465R463CSTAD2
R472S471GCOAD1
I548L549ICOAD1
I548L546VKIRC1
A431A431VLUSC1
E742G741ELUSC1
D551D551VOV1
E777E777KSKCM1
N778T779IUCEC1
I548L549IUCEC1
S694S695YUCEC1
E777E777QUCEC1
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 TNPO1
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
E742G741E0.31647189
S694S695Y0.045773678
I548L549I-1.3981304
E777E777Q-1.2143783
E777E777K-1.1875976
I548L546V-1.0019239
A431A431V-0.72425091
I465R463C-0.65985414
R472S471G-0.33817635
N778T779I-0.32375438
D551D551V-0.089081169
(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 TNPO1 from PDB
PDB IDPDB titlePDB structure
2QMRKaryopherin beta2/transportin

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Differential gene expression and gene-gene network for TNPO1
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 TNPO1 and the right PPI network was created from samples without mutations in the LBS of TNPO1. 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 TNPO1
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 TNPO1
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 TNPO1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of TNPO1
Multiple alignments for Q92973 in multiple species
LBSAA sequence# speciesSpecies
A388LRKCSAAALDV4Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Bos taurus, Mus musculus
A388LRKCSAAAIDV1Arabidopsis thaliana
A388LRKCSAAGLDV1Oryza sativa subsp. japonica
A389RKCSAAALDVL4Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Bos taurus, Mus musculus
A389RKCSAAAIDVL1Arabidopsis thaliana
A389RKCSAAGLDVL1Oryza sativa subsp. japonica
A431ILVLGAIAEGC3Homo sapiens, Bos taurus, Mus musculus
A431VLAVGAIAEGC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A431VLALGAIAEGC1Arabidopsis thaliana
A431VLSIGAIAEGC1Oryza sativa subsp. japonica
A507KRVQEAACSAF5Homo sapiens, Bos taurus, Mus musculus, Arabidopsis thaliana, Oryza sativa subsp. japonica
A507KKVQEAGCSAF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A513ACSAFATLEEE4Homo sapiens, Bos taurus, Mus musculus, Oryza sativa subsp. japonica
A513GCSAFAILEEQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A513ACSAFATVEED1Arabidopsis thaliana
A697RQSSFALLGDL3Homo sapiens, Bos taurus, Mus musculus
A697RQSAYALLGDM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A697RQSAFALMGDL1Arabidopsis thaliana
A697RQSALALLGDL1Oryza sativa subsp. japonica
A848FCDAVASWIN-3Homo sapiens, Bos taurus, Mus musculus
A848FVLCVAEYEN-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A848ICQAIASWHEI1Arabidopsis thaliana
A848ICQACASWNEI1Oryza sativa subsp. japonica
D392SAAALDVLANV3Homo sapiens, Bos taurus, Mus musculus
D392SAAALDVLSSF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D392SAAAIDVLSNV1Arabidopsis thaliana
D392SAAGLDVLSNV1Oryza sativa subsp. japonica
D551LLILYDAIGTL3Homo sapiens, Bos taurus, Mus musculus
D551VLILYDAVQTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D551LRIVYDAIGTL1Arabidopsis thaliana
D551LRILYDALGTL1Oryza sativa subsp. japonica
D558IGTLADSVGHH3Homo sapiens, Bos taurus, Mus musculus
D558VQTLADYVGSA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D558IGTLADSVREE1Arabidopsis thaliana
D558LGTLADAVGAE1Oryza sativa subsp. japonica
D647AP-DKDFMIVA3Homo sapiens, Bos taurus, Mus musculus
D647VP-DRDFLVTT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D647AQYDREFIVCS1Arabidopsis thaliana
D647ALYDKEFIVCA1Oryza sativa subsp. japonica
D654MIVALDLLSGL3Homo sapiens, Bos taurus, Mus musculus
D654LVTTLDLVSGI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D654IVCSLDLLSGL1Arabidopsis thaliana
D654IVCALDLLSGL1Oryza sativa subsp. japonica
D701FALLGDLTKAC3Homo sapiens, Bos taurus, Mus musculus
D701YALLGDMCMYC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D701FALMGDLARVF1Arabidopsis thaliana
D701LALLGDLSRVC1Oryza sativa subsp. japonica
D845FIFFCDAVASW3Homo sapiens, Bos taurus, Mus musculus
D845LPMFVLCVAEY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D845LVFICQAIASW1Arabidopsis thaliana
D845LTFICQACASW1Oryza sativa subsp. japonica
E506NKRVQEAACSA5Homo sapiens, Bos taurus, Mus musculus, Arabidopsis thaliana, Oryza sativa subsp. japonica
E506NKKVQEAGCSA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E517FATLEEEACTE3Homo sapiens, Bos taurus, Mus musculus
E517FAILEEQAGPS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E517FATVEEDAAEE1Arabidopsis thaliana
E517FATLEEEAAEE1Oryza sativa subsp. japonica
E596LFPLLECLSSV3Homo sapiens, Bos taurus, Mus musculus
E596LFPLLECFTSI2Arabidopsis thaliana, Oryza sativa subsp. japonica
E596LFPLFECLSSV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E661LSGLAEGLGGN3Homo sapiens, Bos taurus, Mus musculus
E661VSGIIQALGSQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E661LSGLAEGLGSG1Arabidopsis thaliana
E661LSGLAEGLGAG1Oryza sativa subsp. japonica
E742TWAIGEISIQM3Homo sapiens, Bos taurus, Mus musculus
E742IWSAGEMALQL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E742CWAIGELAVKV1Arabidopsis thaliana
E742CWAIGELAIKI1Oryza sativa subsp. japonica
E777PKTLLENTAIT3Homo sapiens, Bos taurus, Mus musculus
E777NTTVLENVAIT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E777NKALVENSAIT1Arabidopsis thaliana
E777NKSLLENSAIT1Oryza sativa subsp. japonica
E817IRDNEEKDSAF3Homo sapiens, Bos taurus, Mus musculus
E817VGENEEKDSAF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E817VRDDIEKEDAF1Arabidopsis thaliana
E817IRDDFEKEDAF1Oryza sativa subsp. japonica
F592EDKDLFPLLEC3Homo sapiens, Bos taurus, Mus musculus
F592SDKDLFPLLEC2Arabidopsis thaliana, Oryza sativa subsp. japonica
F592DDPNLFPLFEC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F842IQDFIFFCDAV3Homo sapiens, Bos taurus, Mus musculus
F842SYLLPMFVLCV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F842VSSLVFICQAI1Arabidopsis thaliana
F842VGSLTFICQAC1Oryza sativa subsp. japonica
G554LYDAIGTLADS3Homo sapiens, Bos taurus, Mus musculus
G554LYDAVQTLADY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G554VYDAIGTLADS1Arabidopsis thaliana
G554LYDALGTLADA1Oryza sativa subsp. japonica
I465ALVRSITCWTL3Homo sapiens, Bos taurus, Mus musculus
I465PLVRTITCWTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I465PLIRSISCWTL1Arabidopsis thaliana
I465PLIRSITCWTL1Oryza sativa subsp. japonica
I548HKNLLILYDAI3Homo sapiens, Bos taurus, Mus musculus
I548RKNVLILYDAV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I548RRNLRIVYDAI1Arabidopsis thaliana
I548RRNLRILYDAL1Oryza sativa subsp. japonica
I650DKDFMIVALDL3Homo sapiens, Bos taurus, Mus musculus
I650DRDFLVTTLDL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I650DREFIVCSLDL1Arabidopsis thaliana
I650DKEFIVCALDL1Oryza sativa subsp. japonica
I781LENTAITIGRL3Homo sapiens, Bos taurus, Mus musculus
I781LENVAITIGRL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I781VENSAITLGRL1Arabidopsis thaliana
I781LENSAITLGRL1Oryza sativa subsp. japonica
I812TSLRNIRDNEE3Homo sapiens, Bos taurus, Mus musculus
I812EIIKTVGENEE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I812MALSMVRDDIE1Arabidopsis thaliana
I812NALCMIRDDFE1Oryza sativa subsp. japonica
I841VIQDFIFFCDA3Homo sapiens, Bos taurus, Mus musculus
I841LSYLLPMFVLC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I841GVSSLVFICQA1Arabidopsis thaliana
I841AVGSLTFICQA1Oryza sativa subsp. japonica
K385DWNLRKCSAAA4Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Bos taurus, Mus musculus
K385VWNLRKCSAAA1Arabidopsis thaliana
K385VWNLRKCSAAG1Oryza sativa subsp. japonica
L427KESGILVLGAI3Homo sapiens, Bos taurus, Mus musculus
L427QEAGVLAVGAI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L427REAAVLALGAI1Arabidopsis thaliana
L427REAAVLSIGAI1Oryza sativa subsp. japonica
N734FISVCNNATWA3Homo sapiens, Bos taurus, Mus musculus
N734HVSASNNAIWS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N734NLSVANNACWA1Arabidopsis thaliana
N734AVSVANNACWA1Oryza sativa subsp. japonica
N735ISVCNNATWAI3Homo sapiens, Bos taurus, Mus musculus
N735VSASNNAIWSA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N735LSVANNACWAI1Arabidopsis thaliana
N735VSVANNACWAI1Oryza sativa subsp. japonica
N778KTLLENTAITI3Homo sapiens, Bos taurus, Mus musculus
N778TTVLENVAITI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N778KALVENSAITL1Arabidopsis thaliana
N778KSLLENSAITL1Oryza sativa subsp. japonica
N811CTSLRNIRDNE3Homo sapiens, Bos taurus, Mus musculus
N811FEIIKTVGENE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N811CMALSMVRDDI1Arabidopsis thaliana
N811CNALCMIRDDF1Oryza sativa subsp. japonica
N815RNIRDNEEKDS3Homo sapiens, Bos taurus, Mus musculus
N815KTVGENEEKDS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N815SMVRDDIEKED1Arabidopsis thaliana
N815CMIRDDFEKED1Oryza sativa subsp. japonica
P593DKDLFPLLECL3Homo sapiens, Bos taurus, Mus musculus
P593DKDLFPLLECF2Arabidopsis thaliana, Oryza sativa subsp. japonica
P593DPNLFPLFECL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P885FSDQFPLPLKE3Homo sapiens, Bos taurus, Mus musculus
P885-----SPEVLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P885CLSALDPPVKE1Arabidopsis thaliana
P885CMSTLEPAVVQ1Oryza sativa subsp. japonica
P887DQFPLPLKERL3Homo sapiens, Bos taurus, Mus musculus
P887---SPEVLAQI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P887SALDPPVKERL1Arabidopsis thaliana
P887STLEPAVVQRL1Oryza sativa subsp. japonica
Q693MPEVRQSSFAL3Homo sapiens, Bos taurus, Mus musculus
Q693VPEVRQSAYAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q693AADVRQSAFAL1Arabidopsis thaliana
Q693AADVRQSALAL1Oryza sativa subsp. japonica
R472CWTLSRYAHWV3Homo sapiens, Bos taurus, Mus musculus
R472CWTLGRYSKWA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R472CWTLSRFGKYL1Arabidopsis thaliana
R472CWTLSRYSKFI1Oryza sativa subsp. japonica
R503LDSNKRVQEAA3Homo sapiens, Bos taurus, Mus musculus
R503LDTNKRVQEAA2Arabidopsis thaliana, Oryza sativa subsp. japonica
R503VDNNKKVQEAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R785AITIGRLGYVC3Homo sapiens, Bos taurus, Mus musculus
R785AITIGRLGVYN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R785AITLGRLAWIR1Arabidopsis thaliana
R785AITLGRLCWVC1Oryza sativa subsp. japonica
R810WCTSLRNIRDN3Homo sapiens, Bos taurus, Mus musculus
R810WFEIIKTVGEN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R810WCMALSMVRDD1Arabidopsis thaliana
R810WCNALCMIRDD1Oryza sativa subsp. japonica
R813SLRNIRDNEEK3Homo sapiens, Bos taurus, Mus musculus
R813IIKTVGENEEK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R813ALSMVRDDIEK1Arabidopsis thaliana
R813ALCMIRDDFEK1Oryza sativa subsp. japonica
S510QEAACSAFATL4Homo sapiens, Bos taurus, Mus musculus, Oryza sativa subsp. japonica
S510QEAGCSAFAIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S510QEAACSAFATV1Arabidopsis thaliana
S599LLECLSSVATA3Homo sapiens, Bos taurus, Mus musculus
S599LFECLSSVAVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S599LLECFTSISQA1Arabidopsis thaliana
S599LLECFTSIAQA1Oryza sativa subsp. japonica
S600LECLSSVATAL3Homo sapiens, Bos taurus, Mus musculus
S600FECLSSVAVAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S600LECFTSISQAL1Arabidopsis thaliana
S600LECFTSIAQAL1Oryza sativa subsp. japonica
S657ALDLLSGLAEG4Homo sapiens, Bos taurus, Mus musculus, Oryza sativa subsp. japonica
S657TLDLVSGIIQA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S657SLDLLSGLAEG1Arabidopsis thaliana
S694PEVRQSSFALL3Homo sapiens, Bos taurus, Mus musculus
S694PEVRQSAYALL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S694ADVRQSAFALM1Arabidopsis thaliana
S694ADVRQSALALL1Oryza sativa subsp. japonica
S731--EFISVCNNA3Homo sapiens, Bos taurus, Mus musculus
S731--LHVSASNNA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S731NRENLSVANNA1Arabidopsis thaliana
S731VKEAVSVANNA1Oryza sativa subsp. japonica
S849CDAVASWIN-P3Homo sapiens, Bos taurus, Mus musculus
S849VLCVAEYEN-P1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S849CQAIASWHEIR1Arabidopsis thaliana
S849CQACASWNEIK1Oryza sativa subsp. japonica
T514CSAFATLEEEA4Homo sapiens, Bos taurus, Mus musculus, Oryza sativa subsp. japonica
T514CSAFAILEEQA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T514CSAFATVEEDA1Arabidopsis thaliana
T555YDAIGTLADSV4Homo sapiens, Bos taurus, Mus musculus, Arabidopsis thaliana
T555YDAVQTLADYV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T555YDALGTLADAV1Oryza sativa subsp. japonica
T774NT-PKTLLENT3Homo sapiens, Bos taurus, Mus musculus
T774KS-NTTVLENV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T774EGVNKALVENS1Arabidopsis thaliana
T774EGLNKSLLENS1Oryza sativa subsp. japonica
V651KDFMIVALDLL3Homo sapiens, Bos taurus, Mus musculus
V651RDFLVTTLDLV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V651REFIVCSLDLL1Arabidopsis thaliana
V651KEFIVCALDLL1Oryza sativa subsp. japonica
W381DTISDWNLRKC3Homo sapiens, Bos taurus, Mus musculus
W381DAFMDWNLRKC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W381DSFNVWNLRKC1Arabidopsis thaliana
W381DAVNVWNLRKC1Oryza sativa subsp. japonica
W468RSITCWTLSRY4Homo sapiens, Bos taurus, Mus musculus, Oryza sativa subsp. japonica
W468RTITCWTLGRY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W468RSISCWTLSRF1Arabidopsis thaliana
W738CNNATWAIGEI3Homo sapiens, Bos taurus, Mus musculus
W738ANNACWAIGEL2Arabidopsis thaliana, Oryza sativa subsp. japonica
W738SNNAIWSAGEM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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