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 PLK4
Gene summary
Basic gene Info.Gene symbolPLK4
Gene namepolo-like kinase 4
SynonymsSAK|STK18
CytomapUCSC genome browser: 4q28
Type of geneprotein-coding
RefGenesNM_001190799.1,
NM_001190801.1,NM_014264.4,
DescriptionPLK-4Snk akin kinaseserine/threonine kinase 18serine/threonine protein kinase SAKserine/threonine-protein kinase 18serine/threonine-protein kinase PLK4serine/threonine-protein kinase Sak
Modification date20141222
dbXrefs MIM : 605031
HGNC : HGNC
Ensembl : ENSG00000142731
HPRD : 10387
Vega : OTTHUMG00000133301
ProteinUniProt: O00444
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PLK4
BioGPS: 10733
PathwayNCI Pathway Interaction Database: PLK4
KEGG: PLK4
REACTOME: PLK4
Pathway Commons: PLK4
ContextiHOP: PLK4
ligand binding site mutation search in PubMed: PLK4
UCL Cancer Institute: PLK4
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0046601positive regulation of centriole replication22349705


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Ligand binding site mutations for PLK4
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
L89L89SBLCA1
A153I152MCOAD1
L18L17MCOAD1
Y688Q687KCOAD1
D154F155LTHCA1
E90E90AUCEC1
T606T606IUCEC1
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 PLK4
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
D154F155L0.73551954
E90E90A-1.3008852
L89L89S-1.1056042
Y688Q687K-1.0617017
L18L17M-0.8397599
A153I152M-0.75477249
T606T606I-0.38928652
(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 PLK4 from PDB

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Differential gene expression and gene-gene network for PLK4
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 PLK4 and the right PPI network was created from samples without mutations in the LBS of PLK4. 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 PLK4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025958Microcephaly1Biomarker
umls:C0013336Dwarfism1Biomarker
umls:C0015398Eye Diseases, Hereditary1Biomarker

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

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Pharmacological information for PLK4
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PLK4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
4J72-({2-FLUORO-4-[(2-FLUORO-3-NITROBENZYL) SULFONYL]PHENYL}SULFANYL)-5-METHOXY-N-(3-METHYL-1H- PYRAZOL-5-YL)-6-(MORPHOLIN-4-YL)PYRIMIDIN-4-AMINE4yurAL18 E90 A153
631(1R,2S)-2-{3-[(E)-2-{4-[(DIMETHYLAMINO) METHYL]PHENYL}ETHENYL]-2H-INDAZOL-6-YL}-5'- METHOXYSPIRO[CYCLOPROPANE-1,3'-INDOL]-2'(1'H)-ONE4jxfAL18 L89 E90 A153 D154
IIIPeptide ligand (ASP,ASP,ASP,ILE,ASP,ASP,GLU,MET,PHE,TYR,ASP,ASP,HIS,LEU,GLU,ALA,TYR,PHE,GLU,GLN,LEU,ALA,ILE,PRO,GLY,MET,ILE,TYR,GLU)4n7zAT606 Y688


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Conservation information for LBS of PLK4
Multiple alignments for O00444 in multiple species
LBSAA sequence# speciesSpecies
A153MNIKIADFGLA4Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus
A153MHVKIADFGLA1Drosophila melanogaster
A39TGLEVAIKMID3Homo sapiens, Mus musculus, Bos taurus
A39THQDVAIKMID1Drosophila melanogaster
A39TGIDVAIKMID1Xenopus tropicalis
A609QKTKKAVVSIL3Homo sapiens, Mus musculus, Bos taurus
A609YKTKNAIMSIL1Drosophila melanogaster
A609QKTKNAVVSIL1Xenopus tropicalis
C92LVLEMCHNGEM3Homo sapiens, Mus musculus, Bos taurus
C92LVLELAHNGEL1Drosophila melanogaster
C92LILEMCHNGEM1Xenopus tropicalis
D154NIKIADFGLAT3Homo sapiens, Xenopus tropicalis, Mus musculus
D154HVKIADFGLAT1Drosophila melanogaster
D154NIKIADFGLAA1Bos taurus
E90VYLVLEMCHNG3Homo sapiens, Mus musculus, Bos taurus
E90VYLVLELAHNG1Drosophila melanogaster
E90VYLILEMCHNG1Xenopus tropicalis
E96MCHNGEMNRYL3Homo sapiens, Mus musculus, Bos taurus
E96LAHNGELHRYM1Drosophila melanogaster
E96MCHNGEMNRFL1Xenopus tropicalis
F23LGKGSFAGVYR3Homo sapiens, Mus musculus, Bos taurus
F23LGKGGFATVYK1Drosophila melanogaster
F23LGKGSFACVYR1Xenopus tropicalis
F706PKITYFTRYAK3Homo sapiens, Mus musculus, Bos taurus
F706PKVTYFSTLGK1Drosophila melanogaster
F706PKVTYYTRYAK1Xenopus tropicalis
G19VGNLLGKGSFA3Homo sapiens, Mus musculus, Bos taurus
G19VQHLLGKGGFA1Drosophila melanogaster
G19VLNLLGKGSFA1Xenopus tropicalis
G21NLLGKGSFAGV3Homo sapiens, Mus musculus, Bos taurus
G21HLLGKGGFATV1Drosophila melanogaster
G21NLLGKGSFACV1Xenopus tropicalis
G804FPIIIGRKPGS1Homo sapiens
G804FPVTIGRRPIT1Drosophila melanogaster
G804FPITFGRRPAI1Xenopus tropicalis
G804FPIIVGRKPGN1Mus musculus
G804FPIIVGRRPSS1Bos taurus
G95EMCHNGEMNRY3Homo sapiens, Mus musculus, Bos taurus
G95ELAHNGELHRY1Drosophila melanogaster
G95EMCHNGEMNRF1Xenopus tropicalis
H93VLEMCHNGEMN3Homo sapiens, Mus musculus, Bos taurus
H93VLELAHNGELH1Drosophila melanogaster
H93ILEMCHNGEMN1Xenopus tropicalis
I602HRLKPIRQKTK2Homo sapiens, Mus musculus
I602KRLLPTRYKTK1Drosophila melanogaster
I602ERLKPIRQKTK1Xenopus tropicalis
I602YRLKPIRQKTK1Bos taurus
K20GNLLGKGSFAG3Homo sapiens, Mus musculus, Bos taurus
K20QHLLGKGGFAT1Drosophila melanogaster
K20LNLLGKGSFAC1Xenopus tropicalis
K41LEVAIKMIDKK3Homo sapiens, Mus musculus, Bos taurus
K41QDVAIKMIDKK1Drosophila melanogaster
K41IDVAIKMIDKK1Xenopus tropicalis
K600VAHRLKPIRQK1Homo sapiens
K600NTKRLLPTRYK1Drosophila melanogaster
K600NAERLKPIRQK1Xenopus tropicalis
K600IAHRLKPIRQK1Mus musculus
K600TAYRLKPIRQK1Bos taurus
K607IRQKTKKAVVS3Homo sapiens, Mus musculus, Bos taurus
K607TRYKTKNAIMS1Drosophila melanogaster
K607IRQKTKNAVVS1Xenopus tropicalis
K608RQKTKKAVVSI3Homo sapiens, Mus musculus, Bos taurus
K608RYKTKNAIMSI1Drosophila melanogaster
K608RQKTKNAVVSI1Xenopus tropicalis
K625ELV--KEYASQ1Homo sapiens
K625EFLKFRPTYNE1Drosophila melanogaster
K625EFL--KEQNSQ1Xenopus tropicalis
K625ELL--RECASE1Mus musculus
K625ELL--KDYASQ1Bos taurus
K634SQEYVKEVLQI2Homo sapiens, Bos taurus
K634NEDRINDICRI1Drosophila melanogaster
K634SQERVKEVLRI1Xenopus tropicalis
K634SEGYVKEVLQI1Mus musculus
K685EKYWRKYQYAS3Homo sapiens, Mus musculus, Bos taurus
K685SKHWKKYIYGA1Drosophila melanogaster
K685EKYWKKYQYAA1Xenopus tropicalis
K699QLVRSKSPKIT2Homo sapiens, Bos taurus
K699GLVKSKTPKVT1Drosophila melanogaster
K699QLVRSKMPKVT1Xenopus tropicalis
K699QLVRSKTPKIT1Mus musculus
L142LTLSNLLLTRN2Homo sapiens, Bos taurus
L142ISLSNLLLSRE1Drosophila melanogaster
L142LTLSNLLLSSD1Xenopus tropicalis
L142LTLSNILLTRN1Mus musculus
L143TLSNLLLTRNM2Homo sapiens, Bos taurus
L143SLSNLLLSREM1Drosophila melanogaster
L143TLSNLLLSSDM1Xenopus tropicalis
L143TLSNILLTRNM1Mus musculus
L18KVGNLLGKGSF2Homo sapiens, Mus musculus
L18EVQHLLGKGGF1Drosophila melanogaster
L18KVLNLLGKGSF1Xenopus tropicalis
L18RVGNLLGKGSF1Bos taurus
L695SRFVQLVRSKS2Homo sapiens, Bos taurus
L695ARFVGLVKSKT1Drosophila melanogaster
L695AKFIQLVRSKM1Xenopus tropicalis
L695SRFIQLVRSKT1Mus musculus
L73KHPSILELYNY3Homo sapiens, Xenopus tropicalis, Bos taurus
L73KHPSVLQLYTF1Drosophila melanogaster
L73KHPSVLELYNY1Mus musculus
L89YVYLVLEMCHN3Homo sapiens, Mus musculus, Bos taurus
L89YVYLVLELAHN1Drosophila melanogaster
L89YVYLILEMCHN1Xenopus tropicalis
M91YLVLEMCHNGE3Homo sapiens, Mus musculus, Bos taurus
M91YLVLELAHNGE1Drosophila melanogaster
M91YLILEMCHNGE1Xenopus tropicalis
N94LEMCHNGEMNR4Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus
N94LELAHNGELHR1Drosophila melanogaster
P601AHRLKPIRQKT2Homo sapiens, Mus musculus
P601TKRLLPTRYKT1Drosophila melanogaster
P601AERLKPIRQKT1Xenopus tropicalis
P601AYRLKPIRQKT1Bos taurus
P701VRSKSPKITYF2Homo sapiens, Bos taurus
P701VKSKTPKVTYF1Drosophila melanogaster
P701VRSKMPKVTYY1Xenopus tropicalis
P701VRSKTPKITYF1Mus musculus
Q160FGLATQLKMPH1Homo sapiens
Q160FGLATQLKRPD1Drosophila melanogaster
Q160FGLATQLKMPN1Xenopus tropicalis
Q160FGLATQLNMPH1Mus musculus
Q160FGLAAQLKMPH1Bos taurus
Q604LKPIRQKTKKA3Homo sapiens, Mus musculus, Bos taurus
Q604LLPTRYKTKNA1Drosophila melanogaster
Q604LKPIRQKTKNA1Xenopus tropicalis
R28FAGVYRAESIH3Homo sapiens, Mus musculus, Bos taurus
R28FATVYKARCLH1Drosophila melanogaster
R28FACVYRAQSIN1Xenopus tropicalis
R490INAHLRKTTEY1Homo sapiens
R490SSAFCMEAGN-1Drosophila melanogaster
R490LNGKFKNTPDT1Xenopus tropicalis
R490MNAHLGETNEH1Mus musculus
R490IN---------1Bos taurus
R603RLKPIRQKTKK3Homo sapiens, Mus musculus, Bos taurus
R603RLLPTRYKTKN1Drosophila melanogaster
R603RLKPIRQKTKN1Xenopus tropicalis
R684PEKYWRKYQYA3Homo sapiens, Mus musculus, Bos taurus
R684PSKHWKKYIYG1Drosophila melanogaster
R684PEKYWKKYQYA1Xenopus tropicalis
R691YQYASRFVQLV2Homo sapiens, Bos taurus
R691YIYGARFVGLV1Drosophila melanogaster
R691YQYAAKFIQLV1Xenopus tropicalis
R691YQYASRFIQLV1Mus musculus
R99NGEMNRYLKNR3Homo sapiens, Mus musculus, Bos taurus
R99NGELHRYMNHI1Drosophila melanogaster
R99NGEMNRFLKNR1Xenopus tropicalis
S140RDLTLSNLLLT2Homo sapiens, Bos taurus
S140RDISLSNLLLS1Drosophila melanogaster
S140RDLTLSNLLLS1Xenopus tropicalis
S140RDLTLSNILLT1Mus musculus
T159DFGLATQLKMP2Homo sapiens, Xenopus tropicalis
T159DFGLATQLKRP1Drosophila melanogaster
T159DFGLATQLNMP1Mus musculus
T159DFGLAAQLKMP1Bos taurus
T606PIRQKTKKAVV3Homo sapiens, Mus musculus, Bos taurus
T606PTRYKTKNAIM1Drosophila melanogaster
T606PIRQKTKNAVV1Xenopus tropicalis
V26GSFAGVYRAES3Homo sapiens, Mus musculus, Bos taurus
V26GGFATVYKARC1Drosophila melanogaster
V26GSFACVYRAQS1Xenopus tropicalis
V696RFVQLVRSKSP2Homo sapiens, Bos taurus
V696RFVGLVKSKTP1Drosophila melanogaster
V696KFIQLVRSKMP1Xenopus tropicalis
V696RFIQLVRSKTP1Mus musculus
Y688WRKYQYASRFV2Homo sapiens, Bos taurus
Y688WKKYIYGARFV1Drosophila melanogaster
Y688WKKYQYAAKFI1Xenopus tropicalis
Y688WRKYQYASRFI1Mus musculus


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