mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
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 TF
Gene summary
Basic gene Info.Gene symbolTF
Gene nametransferrin
SynonymsPRO1557|PRO2086|TFQTL1
CytomapUCSC genome browser: 3q22.1
Type of geneprotein-coding
RefGenesNM_001063.3,
Descriptionbeta-1 metal-binding globulinserotransferrinsiderophilin
Modification date20141207
dbXrefs MIM : 190000
HGNC : HGNC
Ensembl : ENSG00000091513
HPRD : 01811
Vega : OTTHUMG00000150356
ProteinUniProt: P02787
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TF
BioGPS: 7018
PathwayNCI Pathway Interaction Database: TF
KEGG: TF
REACTOME: TF
Pathway Commons: TF
ContextiHOP: TF
ligand binding site mutation search in PubMed: TF
UCL Cancer Institute: TF
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


Top
Ligand binding site mutations for TF
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
H617V616ICOAD1
A594A594VCOAD1
E672E672KHNSC1
K315S317CHNSC1
R475R475TLUAD1
R663R663KLUSC1
G146G146WSKCM1
R371E370KSKCM1
H268P266SSKCM1
H604A605DSTAD1
A145A145TTHCA1
P441T440IUCEC1
Y114F113LUCEC1
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.


Top
Protein structure related information for TF
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
R663R663K-1.5226386
G146G146W-1.1799677
H604A605D-1.0146087
H617V616I-0.86496976
E672E672K-0.8490363
R475R475T-0.68899004
P441T440I-0.67957378
A594A594V-0.66842793
H268P266S-0.57661436
K315S317C-0.55209913
A145A145T-0.47415806
Y114F113L-0.31500931
R371E370K-0.23168156
(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 TF from PDB

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


Top

Top
Phenotype information for TF
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0002395Alzheimer Disease15Biomarker, GeneticVariation
umls:C0521802Congenital atransferrinemia4Biomarker, GeneticVariation
umls:C0019158Hepatitis2Biomarker
umls:C0028754Obesity2Biomarker
umls:C0007097Carcinoma2Biomarker
umls:C0015695Fatty Liver2Biomarker
umls:C0024667Mammary Neoplasms, Animal2Biomarker
umls:C0024668Mammary Neoplasms, Experimental2Biomarker
umls:C0021368Inflammation1Biomarker, GeneticVariation
umls:C0152013Adenocarcinoma of lung1Biomarker
umls:C0001973Alcoholism1Biomarker
umls:C0271901Anemia, hypochromic microcytic1Biomarker
umls:C0004352Autistic Disorder1Biomarker
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C0282193Iron Overload1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker
umls:C0027726Nephrotic Syndrome1Biomarker
umls:C0030524Paratuberculosis1Biomarker
umls:C0035258Restless Legs Syndrome1Biomarker

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

Top
Pharmacological information for TF
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB01370AluminiumSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TF go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


Top
Conservation information for LBS of TF
Multiple alignments for P02787 in multiple species
LBSAA sequence# speciesSpecies
A145GLGRSAGWNIP3Homo sapiens, Bos taurus, Pan troglodytes
A145GIGKTAGWNVI1Xenopus tropicalis
A145GLGRSAGWVIP1Mus musculus
A145GLGRSAGWIIP1Rattus norvegicus
A594PVEEYANCHLA1Homo sapiens
A594PINDFKRCNLA1Xenopus tropicalis
A594PVTDAENCHLA1Bos taurus
A594PVKEYANCHLA1Pan troglodytes
A594PVKDFASCHLA1Mus musculus
A594PVTEFATCHLA1Rattus norvegicus
A599ANCHLARAPNH2Homo sapiens, Pan troglodytes
A599KRCNLAEVPAH1Xenopus tropicalis
A599ENCHLARGPNH1Bos taurus
A599ASCHLAQAPNH1Mus musculus
A599ATCHLAQAPNH1Rattus norvegicus
A614RKDKEACVHKI2Homo sapiens, Pan troglodytes
A614LPGKRKPVVEI1Xenopus tropicalis
A614RKDKATCVEKI1Bos taurus
A614RKEKAARVKAV1Mus musculus
A614RKEKAARVSTV1Rattus norvegicus
D411DAMSLDGGFVY2Homo sapiens, Pan troglodytes
D411DAVTLDGGYMY1Xenopus tropicalis
D411DAMSLDGGYLY1Bos taurus
D411DAMTLDGGHAY1Mus musculus
D411DAMSLDGGHAY1Rattus norvegicus
D662LAKLHDRNTYE2Homo sapiens, Pan troglodytes
D662LLEISEKTTMQ1Xenopus tropicalis
D662LASIAKK-TYD1Bos taurus
D662FVKLPEGTTPE1Mus musculus
D662LTKLPEGTTYE1Rattus norvegicus
D82DAVTLDAGLVY2Homo sapiens, Pan troglodytes
D82DAICVDGGDVY1Xenopus tropicalis
D82DAVTLDGGLVY1Bos taurus
D82DAMTLDGGWVY1Mus musculus
D82DAITLDGGWVY1Rattus norvegicus
E672EKYLGEEYVKA2Homo sapiens, Pan troglodytes
E672QEFLGDKYYTA1Xenopus tropicalis
E672DSYLGDDYVRA1Bos taurus
E672EKYLGAEYMQS1Mus musculus
E672EEYLGAEYLQA1Rattus norvegicus
E673KYLGEEYVKAV2Homo sapiens, Pan troglodytes
E673EFLGDKYYTAV1Xenopus tropicalis
E673SYLGDDYVRAM1Bos taurus
E673KYLGAEYMQSV1Mus musculus
E673EYLGAEYLQAV1Rattus norvegicus
G146LGRSAGWNIPI2Homo sapiens, Pan troglodytes
G146IGKTAGWNVII1Xenopus tropicalis
G146LGRSAGWNIPM1Bos taurus
G146LGRSAGWVIPI1Mus musculus
G146LGRSAGWIIPI1Rattus norvegicus
G671YEKYLGEEYVK2Homo sapiens, Pan troglodytes
G671MQEFLGDKYYT1Xenopus tropicalis
G671YDSYLGDDYVR1Bos taurus
G671PEKYLGAEYMQ1Mus musculus
G671YEEYLGAEYLQ1Rattus norvegicus
H268AQVPSHTVVAR2Homo sapiens, Pan troglodytes
H268ARIPSHAVVAR2Mus musculus, Rattus norvegicus
H268AKVPAHSVLAR1Xenopus tropicalis
H268AMVPSHAVVAR1Bos taurus
H368WCALSHHERLK2Homo sapiens, Pan troglodytes
H368WCTQSKAEKTK1Xenopus tropicalis
H368WCAIGHQERTK1Bos taurus
H368WCALSHLERTK1Mus musculus
H368WCALSHQERAK1Rattus norvegicus
H597EYANCHLARAP2Homo sapiens, Pan troglodytes
H597DFKRCNLAEVP1Xenopus tropicalis
H597DAENCHLARGP1Bos taurus
H597DFASCHLAQAP1Mus musculus
H597EFATCHLAQAP1Rattus norvegicus
H604ARAPNHAVVTR2Homo sapiens, Pan troglodytes
H604AQAPNHVVVSR2Mus musculus, Rattus norvegicus
H604AEVPAHSVVTL1Xenopus tropicalis
H604ARGPNHAVVSR1Bos taurus
H617KEACVHKILRQ2Homo sapiens, Pan troglodytes
H617KRKPVVEILVN1Xenopus tropicalis
H617KATCVEKILNK1Bos taurus
H617KAARVKAVLTS1Mus musculus
H617KAARVSTVLTA1Rattus norvegicus
H661CLAKLHDRNTY2Homo sapiens, Pan troglodytes
H661CLLEISEKTTM1Xenopus tropicalis
H661CLASIAKK-TY1Bos taurus
H661CFVKLPEGTTP1Mus musculus
H661CLTKLPEGTTY1Rattus norvegicus
K225DVAFVKHSTIF2Homo sapiens, Pan troglodytes
K225DVAFVKHTTIF2Mus musculus, Rattus norvegicus
K225DVAFVKHSTVP1Xenopus tropicalis
K225DVAFVKHSTVF1Bos taurus
K315KDLLFKDSAHG2Homo sapiens, Pan troglodytes
K315KDLLFKDSAFG2Mus musculus, Rattus norvegicus
K315KDLLFKDTAVS1Xenopus tropicalis
K315KDLLFKDSADG1Bos taurus
K659TVCLAKLHDRN2Homo sapiens, Pan troglodytes
K659TQCLLEISEKT1Xenopus tropicalis
K659TKCLASIAKK-1Bos taurus
K659TKCFVKLPEGT1Mus musculus
K659TKCLTKLPEGT1Rattus norvegicus
P441NCEDTPEA---2Homo sapiens, Pan troglodytes
P441DLTPCQRRSSQ1Xenopus tropicalis
P441SCKNTPEK---1Bos taurus
P441NCAIPSQQGIF1Mus musculus
P441SCTN-PQSDVF1Rattus norvegicus
R143HTGLGRSAGWN3Homo sapiens, Bos taurus, Pan troglodytes
R143HTGIGKTAGWN1Xenopus tropicalis
R143HTGLGRSAGWV1Mus musculus
R143HTGLGRSAGWI1Rattus norvegicus
R371LSHHERLKCDE2Homo sapiens, Pan troglodytes
R371QSKAEKTKCDD1Xenopus tropicalis
R371IGHQERTKCDR1Bos taurus
R371LSHLERTKCDE1Mus musculus
R371LSHQERAKCDE1Rattus norvegicus
R475HTAVGRTAGWN3Homo sapiens, Xenopus tropicalis, Pan troglodytes
R475HTGVDRTAGWN2Mus musculus, Rattus norvegicus
R475HTAVDRTAGWN1Bos taurus
R600NCHLARAPNHA2Homo sapiens, Pan troglodytes
R600RCNLAEVPAHS1Xenopus tropicalis
R600NCHLARGPNHA1Bos taurus
R600SCHLAQAPNHV1Mus musculus
R600TCHLAQAPNHV1Rattus norvegicus
R663AKLHDRNTYEK2Homo sapiens, Pan troglodytes
R663LEISEKTTMQE1Xenopus tropicalis
R663ASIAKK-TYDS1Bos taurus
R663VKLPEGTTPEK1Mus musculus
R663TKLPEGTTYEE1Rattus norvegicus
S144TGLGRSAGWNI3Homo sapiens, Bos taurus, Pan troglodytes
S144TGIGKTAGWNV1Xenopus tropicalis
S144TGLGRSAGWVI1Mus musculus
S144TGLGRSAGWII1Rattus norvegicus
S389KIECVSAETTE2Homo sapiens, Pan troglodytes
S389SIECTEAATAE1Xenopus tropicalis
S389AIECETAENTE1Bos taurus
S389KIECESAETTE1Mus musculus
S389QIECESAESTE1Rattus norvegicus
T139KKSCHTGLGRS5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
T139KRSCHTGIGKT1Xenopus tropicalis
T471KKSCHTAVGRT2Homo sapiens, Pan troglodytes
T471KKSCHTGVDRT2Mus musculus, Rattus norvegicus
T471VKTCHTAVGRT1Xenopus tropicalis
T471KKSCHTAVDRT1Bos taurus
T476TAVGRTAGWNI3Homo sapiens, Xenopus tropicalis, Pan troglodytes
T476TGVDRTAGWNI2Mus musculus, Rattus norvegicus
T476TAVDRTAGWNI1Bos taurus
Y114DPQTFYYAVAV2Homo sapiens, Pan troglodytes
Y114EPDTCYYAVAV1Xenopus tropicalis
Y114NPQTHYYAVAV1Bos taurus
Y114HPQTYYYAVAV1Mus musculus
Y114HPQTHYLAVAV1Rattus norvegicus
Y207NQYFGYSGAFK2Homo sapiens, Pan troglodytes
Y207QPFFGYVGAFK2Mus musculus, Rattus norvegicus
Y207EPYYNYAGAFK1Xenopus tropicalis
Y207EPYFGYSGAFK1Bos taurus
Y536EGYYGYTGAFR2Homo sapiens, Pan troglodytes
Y536EAYHGYSGAFR1Xenopus tropicalis
Y536ERYYGYTGAFR1Bos taurus
Y536EEYNGYTGAFR1Mus musculus
Y536EGYNGYTGAFQ1Rattus norvegicus
Y674YLGEEYVKAVG2Homo sapiens, Pan troglodytes
Y674FLGDKYYTAVT1Xenopus tropicalis
Y674YLGDDYVRAMT1Bos taurus
Y674YLGAEYMQSVG1Mus musculus
Y674YLGAEYLQAVG1Rattus norvegicus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas