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 YWHAE
Gene summary
Basic gene Info.Gene symbolYWHAE
Gene nametyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
Synonyms14-3-3E|HEL2|KCIP-1|MDCR|MDS
CytomapUCSC genome browser: 17p13.3
Type of geneprotein-coding
RefGenesNM_006761.4,
NR_024058.1,
Description14-3-3 epsilon14-3-3 protein epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine
Modification date20141222
dbXrefs MIM : 605066
HGNC : HGNC
Ensembl : ENSG00000108953
HPRD : 05457
Vega : OTTHUMG00000134316
ProteinUniProt: P62258
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_YWHAE
BioGPS: 7531
PathwayNCI Pathway Interaction Database: YWHAE
KEGG: YWHAE
REACTOME: YWHAE
Pathway Commons: YWHAE
ContextiHOP: YWHAE
ligand binding site mutation search in PubMed: YWHAE
UCL Cancer Institute: YWHAE
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:0060306regulation of membrane repolarization11953308
GO:1901016regulation of potassium ion transmembrane transporter activity11953308
GO:1902309negative regulation of peptidyl-serine dephosphorylation11953308


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Ligand binding site mutations for YWHAE

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K123K125TCOAD1
R57R57IHNSC1
R57R56GKIRC1
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 YWHAE
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
R57R56G-1.0466064
K123K125T-0.48791889
R57R57I-0.028397097
(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 YWHAE from PDB

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Differential gene expression and gene-gene network for YWHAE
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 YWHAE and the right PPI network was created from samples without mutations in the LBS of YWHAE. 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 YWHAE
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 YWHAE
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
ExperimentalDB01780FusicoccinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of YWHAE go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ARG,GLN,ARG,SER,ALA,PRO)2br9AR57
IIIPeptide ligand (ARG,SER,PHE,SER,GLU,PRO,PHE,GLY)3ualAR57 K123
IIIPeptide ligand (ARG,SER,PHE,SER,GLU,PRO,PHE)3ubwAR57 K123


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Conservation information for LBS of YWHAE
Multiple alignments for P62258 in multiple species
LBSAA sequence# speciesSpecies
D216EESYKDSTLIM16Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa
E183SVFYYEILNSP12Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Drosophila melano
E183SVFYYEIQNSP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E183SVFYYEILDSP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E183SVFYYEILNSS1Arabidopsis thaliana
G172HPIRLGLALNF15Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza
G172DPMRLGLALNF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I220KDSTLIMQLLR16Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa
K123KVFYYKMKGDY9Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Drosophila melanog
K123KVFYLKMKGDY7Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
K50LSVAYKNVIGA15Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza
K50LSVAYKNIIGA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L175RLGLALNFSVF16Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa
L219YKDSTLIMQLL16Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa
L223TLIMQLLRDNL16Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa
L230RDNLTLWTSDM8Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Drosophila melanogaster
L230RDNLTLWTSDI3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
L230RDNLTLWTSDL2Arabidopsis thaliana, Oryza sativa subsp. japonica
L230RDNLTLWTSDA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L230RDNLTLWNSDI1Arabidopsis thaliana
L230RDNLTLWTSDN1Oryza sativa subsp. japonica
N176LGLALNFSVFY16Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa
N227QLLRDNLTLWT15Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryz
N227QLLRDNLTLWN1Arabidopsis thaliana
N51SVAYKNVIGAR15Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza
N51SVAYKNIIGAR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R130KGDYHRYLAEF13Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Bos t
R130KGDYYRYLAEF3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
R57VIGARRASWRI15Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza
R57IIGARRASWRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V179ALNFSVFYYEI16Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa
W231DNLTLWTSDMQ6Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Drosophila melanogaster
W231DNLTLWTSDIS3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
W231DNLTLWTSDAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W231DNLTLWTSDMS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W231DNLTLWTSDLN1Arabidopsis thaliana
W231DNLTLWNSDIN1Arabidopsis thaliana
W231DNLTLWTSDMT1Arabidopsis thaliana
W231DNLTLWTSDNA1Oryza sativa subsp. japonica
W231DNLTLWTSDLT1Oryza sativa subsp. japonica
Y131GDYHRYLAEFA6Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Drosophila melanogaster
Y131GDYHRYLAEFK5Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Y131GDYHRYLAEFS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y131GDYYRYLAEFK2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Y131GDYYRYLAEFT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y182FSVFYYEILNS13Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gal
Y182FSVFYYEIQNS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y182FSVFYYEILDS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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