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 POLQ
Gene summary
Basic gene Info.Gene symbolPOLQ
Gene namepolymerase (DNA directed), theta
SynonymsPOLH|PRO0327
CytomapUCSC genome browser: 3q13.33
Type of geneprotein-coding
RefGenesNM_199420.3,
DescriptionDNA polymerase etaDNA polymerase theta
Modification date20141207
dbXrefs MIM : 604419
HGNC : HGNC
Ensembl : ENSG00000051341
HPRD : 10375
Vega : OTTHUMG00000159396
ProteinUniProt: O75417
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_POLQ
BioGPS: 10721
PathwayNCI Pathway Interaction Database: POLQ
KEGG: POLQ
REACTOME: POLQ
Pathway Commons: POLQ
ContextiHOP: POLQ
ligand binding site mutation search in PubMed: POLQ
UCL Cancer Institute: POLQ
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:0006200ATP catabolic process14576298
GO:0071897DNA biosynthetic process14576298


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Ligand binding site mutations for POLQ

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R2466R2466HCOAD1
H2539H2539YHNSC1
K91K91NLUAD1
D216V215LLUAD1
Q2380Q2381HSKCM1
R2379L2378PSTAD1
D2330A2329VTHCA1
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 POLQ
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
R2379L2378P-1.3969365
R2466R2466H-1.1885827
K91K91N-1.087657
Q2380Q2381H-0.97242206
D2330A2329V-0.75623036
H2539H2539Y-0.3440032
D216V215L-0.17480793
(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 POLQ from PDB

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Differential gene expression and gene-gene network for POLQ
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 POLQ and the right PPI network was created from samples without mutations in the LBS of POLQ. 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 POLQ
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 POLQ
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 POLQ go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)5agaAD216
CACALCIUM(2+)4x0pAD2330
CACALCIUM(2+)4x0pBD2330
CACALCIUM(2+)4x0pCD2330
CACALCIUM(2+)4x0pDD2330
MGMAGNESIUM(2+)4x0qAD2330
MGMAGNESIUM(2+)4x0qBD2330
DDSDDATP4x0pAD2330 R2379
DDSDDATP4x0pBD2330 R2379
DDSDDATP4x0pCD2330 R2379
DDSDDATP4x0pDD2330 R2379
DG3DDGTP4x0qAD2330 R2379
NUCNucleic Acids4x0pBH2539
NUCNucleic Acids4x0qAH2539
ANPAMP-PNP5agaAK91
NUCNucleic Acids4x0qBQ2380
DG3DDGTP4x0qBR2379
NUCNucleic Acids4x0pAR2466
NUCNucleic Acids4x0pBR2466
NUCNucleic Acids4x0pCR2466
NUCNucleic Acids4x0pDR2466
NUCNucleic Acids4x0qAR2466
NUCNucleic Acids4x0qBR2466


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Conservation information for LBS of POLQ
Multiple alignments for O75417 in multiple species
LBSAA sequence# speciesSpecies
A119SAPTSAGKTLV3Homo sapiens, Drosophila melanogaster, Mus musculus
A2238SQSHTATGRIT2Homo sapiens, Mus musculus
A2238SITYTATGRIS1Drosophila melanogaster
A2462NPYRKAHAERQ1Homo sapiens
A2462VEHLKNQAERQ1Drosophila melanogaster
A2462NPYHKAHAERQ1Mus musculus
D2131SFTSSDDIAEV1Homo sapiens
D2131NLGSSQAVAKV1Drosophila melanogaster
D2131SFTSADDIAQV1Mus musculus
D216GMVVVDELHML2Homo sapiens, Mus musculus
D216GMVVVDEVHLI1Drosophila melanogaster
D2330SILAADYSQLE1Homo sapiens
D2330CLLSADFCQLE1Drosophila melanogaster
D2330LILAADYSQLE1Mus musculus
D2540ILQLHDELLYE2Homo sapiens, Mus musculus
D2540VMHLHDELIFE1Drosophila melanogaster
E2246RITFTEPNIQN2Homo sapiens, Mus musculus
E2246RISMTEPNLQN1Drosophila melanogaster
E2335DYSQLELRILA2Homo sapiens, Mus musculus
E2335DFCQLEMRILA1Drosophila melanogaster
F2359TGADVFRSIAA2Homo sapiens, Mus musculus
F2359SSQDLFIAIAA1Drosophila melanogaster
F93GVKKMFEWQAE1Homo sapiens
F93GVVDMFDWQVE1Drosophila melanogaster
F93GVRKMFEWQAE1Mus musculus
G120APTSAGKTLVA2Homo sapiens, Mus musculus
G120APTSAGKTLVS1Drosophila melanogaster
G2388KQICYGIIYGM2Homo sapiens, Mus musculus
G2388KQVCYGIVYGM1Drosophila melanogaster
G2394IIYGMGAKSLG2Homo sapiens, Mus musculus
G2394IVYGMGMRSLA1Drosophila melanogaster
H2463PYRKAHAERQA1Homo sapiens
H2463EHLKNQAERQA1Drosophila melanogaster
H2463PYHKAHAERQA1Mus musculus
H2539FILQLHDELLY2Homo sapiens, Mus musculus
H2539-VMHLHDELIF1Drosophila melanogaster
K121PTSAGKTLVAE2Homo sapiens, Mus musculus
K121PTSAGKTLVSE1Drosophila melanogaster
K2181QFSTSKDVLNK1Homo sapiens
K2181RVTTSRQVLEK1Drosophila melanogaster
K2181QFSTSKDILNK1Mus musculus
K2209TNAITKVVFPL1Homo sapiens
K2209SGLLAKSIQPL1Drosophila melanogaster
K2209SNAITKVVFPL1Mus musculus
K2383LRQQAKQICYG1Homo sapiens
K2383LRNSTKQVCYG1Drosophila melanogaster
K2383LRQHAKQICYG1Mus musculus
K2575VKLKVKVKIGA2Homo sapiens, Mus musculus
K2575VPLKVKLRIGR1Drosophila melanogaster
K91SFGVKKMFEWQ1Homo sapiens
K91KKGVVDMFDWQ1Drosophila melanogaster
K91SFGVRKMFEWQ1Mus musculus
L123SAGKTLVAELL2Homo sapiens, Mus musculus
L123SAGKTLVSEIL1Drosophila melanogaster
L2538FFILQLHDELL2Homo sapiens, Mus musculus
L2538--VMHLHDELI1Drosophila melanogaster
M2393GIIYGMGAKSL2Homo sapiens, Mus musculus
M2393GIVYGMGMRSL1Drosophila melanogaster
N2205WRRITNAITKV1Homo sapiens
N2205YRKLSGLLAKS1Drosophila melanogaster
N2205WRRISNAITKV1Mus musculus
N2248TFTEPNIQNVP2Homo sapiens, Mus musculus
N2248SMTEPNLQNVA1Drosophila melanogaster
N2251EPNIQNVPRDF2Homo sapiens, Mus musculus
N2251EPNLQNVAKEF1Drosophila melanogaster
N2457GIKDNNPYRKA1Homo sapiens
N2457NINSDVEHLKN1Drosophila melanogaster
N2457GIKDDNPYHKA1Mus musculus
N2470ERQAINTIVQG1Homo sapiens
N2470ERQAVNSTIQG1Drosophila melanogaster
N2470ERQAINTTVQG1Mus musculus
P2213TKVVFPLQREK2Homo sapiens, Mus musculus
P2213AKSIQPLM-EC1Drosophila melanogaster
P2247ITFTEPNIQNV2Homo sapiens, Mus musculus
P2247ISMTEPNLQNV1Drosophila melanogaster
P2253NIQNVPRDFEI2Homo sapiens, Mus musculus
P2253NLQNVAKEFSI1Drosophila melanogaster
P2458IKDNNPYRKAH1Homo sapiens
P2458INSDVEHLKNQ1Drosophila melanogaster
P2458IKDDNPYHKAH1Mus musculus
Q2176LRLGRQFSTSK1Homo sapiens
Q2176RKAKGRVTTSR1Drosophila melanogaster
Q2176MRLGRQFSTSK1Mus musculus
Q2250TEPNIQNVPRD2Homo sapiens, Mus musculus
Q2250TEPNLQNVAKE1Drosophila melanogaster
Q2333AADYSQLELRI2Homo sapiens, Mus musculus
Q2333SADFCQLEMRI1Drosophila melanogaster
Q2380GDDLRQQAKQI1Homo sapiens
Q2380TQDLRNSTKQV1Drosophila melanogaster
Q2380GDDLRQHAKQI1Mus musculus
Q2384RQQAKQICYGI1Homo sapiens
Q2384RNSTKQVCYGI1Drosophila melanogaster
Q2384RQHAKQICYGI1Mus musculus
Q2467AHAERQAINTI1Homo sapiens
Q2467NQAERQAVNST1Drosophila melanogaster
Q2467AHAERQAINTT1Mus musculus
Q2474INTIVQGSAAD1Homo sapiens
Q2474VNSTIQGSAAD1Drosophila melanogaster
Q2474INTTVQGSAAD1Mus musculus
Q96KMFEWQAECLL2Homo sapiens, Mus musculus
Q96DMFDWQVECLS1Drosophila melanogaster
R2201LILEWRRITNA1Homo sapiens
R2201LILGYRKLSGL1Drosophila melanogaster
R2201LILEWRRISNA1Mus musculus
R2202ILEWRRITNAI1Homo sapiens
R2202ILGYRKLSGLL1Drosophila melanogaster
R2202ILEWRRISNAI1Mus musculus
R2241HTATGRITFTE2Homo sapiens, Mus musculus
R2241YTATGRISMTE1Drosophila melanogaster
R2254IQNVPRDFEIK2Homo sapiens, Mus musculus
R2254LQNVAKEFSIQ1Drosophila melanogaster
R2379VGDDLRQQAKQ1Homo sapiens
R2379VTQDLRNSTKQ1Drosophila melanogaster
R2379VGDDLRQHAKQ1Mus musculus
R2448ILGRRRYLPGI2Homo sapiens, Mus musculus
R2448ITGRRRYLENI1Drosophila melanogaster
R2466KAHAERQAINT2Homo sapiens, Mus musculus
R2466KNQAERQAVNS1Drosophila melanogaster
S118YSAPTSAGKTL3Homo sapiens, Drosophila melanogaster, Mus musculus
S2129SFSFTSSDDIA1Homo sapiens
S2129RFNLGSSQAVA1Drosophila melanogaster
S2129SFSFTSADDIA1Mus musculus
S2178LGRQFSTSKDV1Homo sapiens
S2178AKGRVTTSRQV1Drosophila melanogaster
S2178LGRQFSTSKDI1Mus musculus
S2180RQFSTSKDVLN1Homo sapiens
S2180GRVTTSRQVLE1Drosophila melanogaster
S2180RQFSTSKDILN1Mus musculus
S2332LAADYSQLELR2Homo sapiens, Mus musculus
S2332LSADFCQLEMR1Drosophila melanogaster
S2397GMGAKSLGEQM2Homo sapiens, Mus musculus
S2397GMGMRSLAESL1Drosophila melanogaster
T117VYSAPTSAGKT3Homo sapiens, Drosophila melanogaster, Mus musculus
T122TSAGKTLVAEL2Homo sapiens, Mus musculus
T122TSAGKTLVSEI1Drosophila melanogaster
T2128HSFSFTSSDDI1Homo sapiens
T2128SRFNLGSSQAV1Drosophila melanogaster
T2128HSFSFTSADDI1Mus musculus
T2179GRQFSTSKDVL1Homo sapiens
T2179KGRVTTSRQVL1Drosophila melanogaster
T2179GRQFSTSKDIL1Mus musculus
T2208ITNAITKVVFP1Homo sapiens
T2208LSGLLAKSIQP1Drosophila melanogaster
T2208ISNAITKVVFP1Mus musculus
T2237VSQSHTATGRI2Homo sapiens, Mus musculus
T2237QSITYTATGRI1Drosophila melanogaster
T2239QSHTATGRITF2Homo sapiens, Mus musculus
T2239ITYTATGRISM1Drosophila melanogaster
T2243ATGRITFTEPN2Homo sapiens, Mus musculus
T2243ATGRISMTEPN1Drosophila melanogaster
T2245GRITFTEPNIQ2Homo sapiens, Mus musculus
T2245GRISMTEPNLQ1Drosophila melanogaster
V89YHSFGVKKMFE1Homo sapiens
V89YKKKGVVDMFD1Drosophila melanogaster
V89YHSFGVRKMFE1Mus musculus
Y2331ILAADYSQLEL2Homo sapiens, Mus musculus
Y2331LLSADFCQLEM1Drosophila melanogaster
Y2387AKQICYGIIYG2Homo sapiens, Mus musculus
Y2387TKQVCYGIVYG1Drosophila melanogaster
Y2391CYGIIYGMGAK2Homo sapiens, Mus musculus
Y2391CYGIVYGMGMR1Drosophila melanogaster
Y2459KDNNPYRKAHA1Homo sapiens
Y2459NSDVEHLKNQA1Drosophila melanogaster
Y2459KDDNPYHKAHA1Mus musculus


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