mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 POLL
Gene summary
Basic gene Info.Gene symbolPOLL
Gene namepolymerase (DNA directed), lambda
SynonymsBETAN|POLKAPPA
CytomapUCSC genome browser: 10q23
Type of geneprotein-coding
RefGenesNM_001174084.1,
NM_001174085.1,NM_013274.3,NR_033406.1,
DescriptionDNA polymerase beta-2DNA polymerase beta-NDNA polymerase kappaDNA polymerase lambda
Modification date20141207
dbXrefs MIM : 606343
HGNC : HGNC
Ensembl : ENSG00000166169
HPRD : 09394
Vega : OTTHUMG00000018933
ProteinUniProt: Q9UGP5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_POLL
BioGPS: 27343
PathwayNCI Pathway Interaction Database: POLL
KEGG: POLL
REACTOME: POLL
Pathway Commons: POLL
ContextiHOP: POLL
ligand binding site mutation search in PubMed: POLL
UCL Cancer Institute: POLL
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:0006289nucleotide-excision repair10982892


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Ligand binding site mutations for POLL

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K312K312TLUAD1
R514S515CLUSC1
H541H541YSKCM1
P547G548SSKCM1
D429L431FUCEC1
R514S515TUCEC1
H530A531VUCEC1
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 POLL
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
D429L431F-1.3451105
R514S515T-0.51743391
K312K312T-0.49432612
R514S515C-0.42153218
H541H541Y-0.32454306
P547G548S-0.23864488
H530A531V-0.1237056
(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 POLL from PDB

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Differential gene expression and gene-gene network for POLL
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 POLL and the right PPI network was created from samples without mutations in the LBS of POLL. 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 POLL
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 POLL
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 POLL go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)1xsnAD429
D3TDDTTP1xsnAD429
NUCNucleic Acids1xspAD429
PPVDIPHOSPHATE(4-)1xspAD429
NUCNucleic Acids2bcqAD429
MGMAGNESIUM(2+)2bcqAD429
NUCNucleic Acids2bcrAD429
MGMAGNESIUM(2+)2bcrAD429
NUCNucleic Acids2bcsAD429
MGMAGNESIUM(2+)2bcsAD429
NUCNucleic Acids2bcuAD429
MGMAGNESIUM(2+)2bcvAD429
TTPDTTP2bcvAD429
MGMAGNESIUM(2+)2pfnAD429
DUP2'-DEOXYURIDINE 5'-ALPHA,BETA-IMIDO-TRIPHOSPHATE2pfnAD429
NUCNucleic Acids2pfoAD429
MGMAGNESIUM(2+)2pfoAD429
MNMANGANESE(2+)2pfoAD429
DUP2'-DEOXYURIDINE 5'-ALPHA,BETA-IMIDO-TRIPHOSPHATE2pfoAD429
MGMAGNESIUM(2+)2pfpAD429
DCPDCTP2pfpAD429
NUCNucleic Acids2pfqAD429
MGMAGNESIUM(2+)2pfqAD429
MNMANGANESE(2+)2pfqAD429
MNMANGANESE(2+)2pfqAD429
DCPDCTP2pfqAD429
PPVDIPHOSPHATE(4-)2pfqAD429
MGMAGNESIUM(2+)3c5gAD429
D3TDDTTP3c5gAD429
D3TDDTTP3c5gBD429
MGMAGNESIUM(2+)3c5gBD429
MGMAGNESIUM(2+)3hw8AD429
D3TDDTTP3hw8AD429
D3TDDTTP3hwtAD429
MGMAGNESIUM(2+)3hwtAD429
D3TDDTTP3hx0AD429
MGMAGNESIUM(2+)3hx0AD429
D3TDDTTP3hx0FD429
MGMAGNESIUM(2+)3hx0FD429
D3TDDTTP3hx0KD429
MGMAGNESIUM(2+)3hx0KD429
D3TDDTTP3hx0PD429
MGMAGNESIUM(2+)3hx0PD429
NUCNucleic Acids3mdaAD429
MGMAGNESIUM(2+)3mdaAD429
GTF2'-DEOXY-2',2'-DIFLUOROCYTIDINE 5'-(TETRAHYDROGENTRIPHOSPHATE)3mdcAD429
MGMAGNESIUM(2+)3mdcAD429
MGMAGNESIUM(2+)3mdcAD429
D3TDDTTP3mgiAD429
MGMAGNESIUM(2+)3mgiAD429
NUCNucleic Acids3pmlAD429
1GC2'-DEOXY-5'-O-[(R)-HYDROXY{[(S)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]METHYL}PHOSPHORYL]GUANOSINE3pmlAD429
MGMAGNESIUM(2+)3pmlAD429
MGMAGNESIUM(2+)3pmlAD429
1GC2'-DEOXY-5'-O-[(R)-HYDROXY{[(S)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]METHYL}PHOSPHORYL]GUANOSINE3pmlBD429
MGMAGNESIUM(2+)3pmlBD429
MGMAGNESIUM(2+)3pmlBD429
NUCNucleic Acids3pmnAD429
1GC2'-DEOXY-5'-O-[(R)-HYDROXY{[(S)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]METHYL}PHOSPHORYL]GUANOSINE3pmnAD429
MGMAGNESIUM(2+)3pmnAD429
MNMANGANESE(2+)3pmnAD429
1GC2'-DEOXY-5'-O-[(R)-HYDROXY{[(S)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]METHYL}PHOSPHORYL]GUANOSINE3pncAD429
MGMAGNESIUM(2+)3pncAD429
NASODIUM(1+)3pncAD429
NUCNucleic Acids3upqAD429
ZAN5'-O-[(S)-HYDROXY{[(S)-HYDROXY(PHOSPHONOOXY) PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE3upqAD429
MNMANGANESE(2+)3upqAD429
MNMANGANESE(2+)3upqAD429
NUCNucleic Acids3uq0AD429
NUCNucleic Acids3uq2AD429
MGMAGNESIUM(2+)3uq2AD429
NUCNucleic Acids4fo6AD429
MGMAGNESIUM(2+)4fo6AD429
MNMANGANESE(2+)4fo6AD429
F2A2'-DEOXY-5'-O-[(S)-HYDROXY{[(S)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]METHYL}PHOSPHORYL]ADENOSINE4fo6AD429
NUCNucleic Acids4x5vAD429
NUCNucleic Acids3hx0AH530
NUCNucleic Acids3hx0FH530
NUCNucleic Acids1rztAK312
NUCNucleic Acids1rztEK312
NUCNucleic Acids1rztIK312
NUCNucleic Acids1rztMK312
NUCNucleic Acids1xslAK312
NUCNucleic Acids1xslEK312
NUCNucleic Acids1xslIK312
NUCNucleic Acids1xslMK312
NUCNucleic Acids1xsnAK312
NUCNucleic Acids1xspAK312
NUCNucleic Acids2bcqAK312
NUCNucleic Acids2bcrAK312
NUCNucleic Acids2bcvAK312
NUCNucleic Acids2gwsAK312
NUCNucleic Acids2gwsEK312
NUCNucleic Acids2gwsMK312
NUCNucleic Acids2pfnAK312
NUCNucleic Acids2pfoAK312
NUCNucleic Acids2pfqAK312
NUCNucleic Acids3c5fAK312
NUCNucleic Acids3c5fBK312
NUCNucleic Acids3c5gAK312
NUCNucleic Acids3c5gBK312
NUCNucleic Acids3hw8AK312
NUCNucleic Acids3hx0AK312
NUCNucleic Acids3hx0FK312
NUCNucleic Acids3hx0KK312
NUCNucleic Acids3hx0PK312
NUCNucleic Acids3mdaAK312
NUCNucleic Acids3mdcAK312
NUCNucleic Acids3mghAK312
NUCNucleic Acids3mghCK312
NUCNucleic Acids3mgiAK312
NUCNucleic Acids3pmlAK312
NUCNucleic Acids3pmlBK312
NUCNucleic Acids3upqAK312
NUCNucleic Acids3uq0AK312
NUCNucleic Acids3uq2AK312
NUCNucleic Acids4fo6AK312
NUCNucleic Acids4x5vAK312
NUCNucleic Acids1rztAR514
NUCNucleic Acids1rztER514
NUCNucleic Acids1rztIR514
NUCNucleic Acids1rztMR514
NUCNucleic Acids1xslAR514
NUCNucleic Acids1xslIR514
NUCNucleic Acids1xslMR514
NUCNucleic Acids2gwsAR514
NUCNucleic Acids2gwsIR514
NUCNucleic Acids2gwsMR514
NUCNucleic Acids3mghAR514
NUCNucleic Acids3mghCR514
NUCNucleic Acids3pmlBR514
NUCNucleic Acids3c5fAR514 H530
NUCNucleic Acids3c5fBR514 H530
NUCNucleic Acids3c5gAR514 H530
NUCNucleic Acids3c5gBR514 H530
NUCNucleic Acids3mdcAR514 H530
NUCNucleic Acids3pmlAR514 H530
NUCNucleic Acids3pmnAR514 H530
NUCNucleic Acids3pncAR514 H530
NUCNucleic Acids3upqAR514 H530
NUCNucleic Acids3uq0AR514 H530
NUCNucleic Acids1xsnAR514 H530 H541
NUCNucleic Acids1xspAR514 H530 H541
NUCNucleic Acids2bcuAR514 H530 H541
NUCNucleic Acids2pfnAR514 H530 H541
NUCNucleic Acids2pfoAR514 H530 H541
NUCNucleic Acids2pfpAR514 H530 H541
NUCNucleic Acids2pfqAR514 H530 H541
NUCNucleic Acids3hw8AR514 H530 H541
NUCNucleic Acids3mdaAR514 H530 H541
NUCNucleic Acids3mgiAR514 H530 H541
NUCNucleic Acids3uq2AR514 H530 H541
NUCNucleic Acids4fo6AR514 H530 H541
NUCNucleic Acids4x5vAR514 H530 H541
NUCNucleic Acids2bcqAR514 H530 H541 P547
NUCNucleic Acids2bcrAR514 H530 H541 P547
NUCNucleic Acids2bcsAR514 H530 H541 P547
NUCNucleic Acids2bcvAR514 H530 H541 P547


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Conservation information for LBS of POLL
Multiple alignments for Q9UGP5 in multiple species
LBSAA sequence# speciesSpecies
A344SNIWGAGTKTA3Homo sapiens, Mus musculus, Rattus norvegicus
A510YFTGSAHFNRS3Homo sapiens, Mus musculus, Rattus norvegicus
A518NRSMRALAKTK3Homo sapiens, Mus musculus, Rattus norvegicus
C412NPGLLCVACGS2Mus musculus, Rattus norvegicus
C412NSGLLCVACGS1Homo sapiens
C425RGKATCGDVDV1Homo sapiens
C425RGKMTCGDVDV1Mus musculus
C425RGKVTCGDVDV1Rattus norvegicus
D382LKHYDDFLDRM2Mus musculus, Rattus norvegicus
D382LKHYSDFLERM1Homo sapiens
D427KATCGDVDVLI1Homo sapiens
D427KMTCGDVDVLI1Mus musculus
D427KVTCGDVDVLI1Rattus norvegicus
D429TCGDVDVLITH3Homo sapiens, Mus musculus, Rattus norvegicus
D490RHRRLDIIVVP3Homo sapiens, Mus musculus, Rattus norvegicus
E465DLVSQEENGQQ3Homo sapiens, Mus musculus, Rattus norvegicus
E466LVSQEENGQQQ3Homo sapiens, Mus musculus, Rattus norvegicus
E529GMSLSEHALSA2Mus musculus, Rattus norvegicus
E529GMSLSEHALST1Homo sapiens
F499VPYSEFACALL2Homo sapiens, Rattus norvegicus
F499VPYCEFACALL1Mus musculus
F506CALLYFTGSAH3Homo sapiens, Mus musculus, Rattus norvegicus
G278KWRALGYAKAI3Homo sapiens, Mus musculus, Rattus norvegicus
G304ACSIPGIGKRM2Homo sapiens, Mus musculus
G304ACSIPGVGRRM1Rattus norvegicus
G306SIPGIGKRMAE2Homo sapiens, Mus musculus
G306SIPGVGRRMAE1Rattus norvegicus
G343FSNIWGAGTKT3Homo sapiens, Mus musculus, Rattus norvegicus
G345NIWGAGTKTAQ3Homo sapiens, Mus musculus, Rattus norvegicus
G416LCVACGSYRRG2Homo sapiens, Mus musculus
G416LCVACGSFRRG1Rattus norvegicus
G426GKATCGDVDVL1Homo sapiens
G426GKMTCGDVDVL1Mus musculus
G426GKVTCGDVDVL1Rattus norvegicus
G468SQEENGQQQKY3Homo sapiens, Mus musculus, Rattus norvegicus
G508LLYFTGSAHFN3Homo sapiens, Mus musculus, Rattus norvegicus
G546HGCKVGPGRVL1Homo sapiens
G546QGVKVGPGQVL1Mus musculus
G546QGVKVGAGQVL1Rattus norvegicus
H486GPGRRHRRLDI1Homo sapiens
H486GPGKRHRRLDI1Mus musculus
H486GAGQRHRRLDI1Rattus norvegicus
H511FTGSAHFNRSM3Homo sapiens, Mus musculus, Rattus norvegicus
H530MSLSEHALSAA2Mus musculus, Rattus norvegicus
H530MSLSEHALSTA1Homo sapiens
H541VVRNSQGVKVG2Mus musculus, Rattus norvegicus
H541VVRNTHGCKVG1Homo sapiens
I305CSIPGIGKRMA2Homo sapiens, Mus musculus
I305CSIPGVGRRMA1Rattus norvegicus
I341ELFSNIWGAGT3Homo sapiens, Mus musculus, Rattus norvegicus
K281ALGYAKAINAL3Homo sapiens, Mus musculus, Rattus norvegicus
K312KRMAEKIIEIL1Homo sapiens
K312KRMAEKVMEIL1Mus musculus
K312RRMAEKVMEIL1Rattus norvegicus
K324SGHLRKLDHIS3Homo sapiens, Mus musculus, Rattus norvegicus
K347WGAGTKTAQMW3Homo sapiens, Mus musculus, Rattus norvegicus
K472NGQQQKYLGVC3Homo sapiens, Mus musculus, Rattus norvegicus
K521MRALAKTKGMS3Homo sapiens, Mus musculus, Rattus norvegicus
K544NTHGCKVGPGR1Homo sapiens
K544NSQGVKVGPGQ1Mus musculus
K544NSQGVKVGAGQ1Rattus norvegicus
L277DKWRALGYAKA3Homo sapiens, Mus musculus, Rattus norvegicus
L410AFNPGLLCVAC2Mus musculus, Rattus norvegicus
L410AFNSGLLCVAC1Homo sapiens
L411FNPGLLCVACG2Mus musculus, Rattus norvegicus
L411FNSGLLCVACG1Homo sapiens
L474QQQKYLGVCRL3Homo sapiens, Mus musculus, Rattus norvegicus
L527TKGMSLSEHAL3Homo sapiens, Mus musculus, Rattus norvegicus
M309GIGKRMAEKII1Homo sapiens
M309GIGKRMAEKVM1Mus musculus
M309GVGRRMAEKVM1Rattus norvegicus
N467VSQEENGQQQK3Homo sapiens, Mus musculus, Rattus norvegicus
N513GSAHFNRSMRA3Homo sapiens, Mus musculus, Rattus norvegicus
P303EACSIPGIGKR2Homo sapiens, Mus musculus
P303EACSIPGVGRR1Rattus norvegicus
P547GCKVGPGRVLP1Homo sapiens
P547GVKVGPGQVLP1Mus musculus
P547GVKVGAGQVLP1Rattus norvegicus
P554QVLPTPTEKDV2Mus musculus, Rattus norvegicus
P554RVLPTPTEKDV1Homo sapiens
Q372ASLTTQQAIGL1Homo sapiens
Q372GSLTAQQAIGL1Mus musculus
Q372ASLTAQQAIGL1Rattus norvegicus
Q400IEQTVQKAAQA1Homo sapiens
Q400IEQTVRISAQA1Mus musculus
Q400IEQMVRVSAQA1Rattus norvegicus
Q464DDLVSQEENGQ3Homo sapiens, Mus musculus, Rattus norvegicus
Q470EENGQQQKYLG3Homo sapiens, Mus musculus, Rattus norvegicus
Q471ENGQQQKYLGV3Homo sapiens, Mus musculus, Rattus norvegicus
R275QGDKWRALGYA3Homo sapiens, Mus musculus, Rattus norvegicus
R308PGIGKRMAEKI1Homo sapiens
R308PGIGKRMAEKV1Mus musculus
R308PGVGRRMAEKV1Rattus norvegicus
R386DDFLDRMPREE2Mus musculus, Rattus norvegicus
R386SDFLERMPREE1Homo sapiens
R420CGSYRRGKATC1Homo sapiens
R420CGSYRRGKMTC1Mus musculus
R420CGSFRRGKVTC1Rattus norvegicus
R488GRRHRRLDIIV1Homo sapiens
R488GKRHRRLDIIV1Mus musculus
R488GQRHRRLDIIV1Rattus norvegicus
R514SAHFNRSMRAL3Homo sapiens, Mus musculus, Rattus norvegicus
R517FNRSMRALAKT3Homo sapiens, Mus musculus, Rattus norvegicus
R538SAAVVRNSQGV2Mus musculus, Rattus norvegicus
R538STAVVRNTHGC1Homo sapiens
S339VLELFSNIWGA3Homo sapiens, Mus musculus, Rattus norvegicus
S417CVACGSYRRGK2Homo sapiens, Mus musculus
S417CVACGSFRRGK1Rattus norvegicus
S463TDDLVSQEENG3Homo sapiens, Mus musculus, Rattus norvegicus
S509LYFTGSAHFNR3Homo sapiens, Mus musculus, Rattus norvegicus
S526KTKGMSLSEHA3Homo sapiens, Mus musculus, Rattus norvegicus
S528KGMSLSEHALS3Homo sapiens, Mus musculus, Rattus norvegicus
T346IWGAGTKTAQM3Homo sapiens, Mus musculus, Rattus norvegicus
T348GAGTKTAQMWY3Homo sapiens, Mus musculus, Rattus norvegicus
T370SQASLTTQQAI1Homo sapiens
T370SLGSLTAQQAI1Mus musculus
T370GLASLTAQQAI1Rattus norvegicus
T371QASLTTQQAIG1Homo sapiens
T371LGSLTAQQAIG1Mus musculus
T371LASLTAQQAIG1Rattus norvegicus
T507ALLYFTGSAHF3Homo sapiens, Mus musculus, Rattus norvegicus
T555VLPTPTEKDVF3Homo sapiens, Mus musculus, Rattus norvegicus
V462LTDDLVSQEEN3Homo sapiens, Mus musculus, Rattus norvegicus
V545THGCKVGPGRV1Homo sapiens
V545SQGVKVGPGQV1Mus musculus
V545SQGVKVGAGQV1Rattus norvegicus
W274VQGDKWRALGY3Homo sapiens, Mus musculus, Rattus norvegicus
W342LFSNIWGAGTK3Homo sapiens, Mus musculus, Rattus norvegicus
Y267VLAKAYSVQGD2Homo sapiens, Mus musculus
Y267VLAKAYNVQGD1Rattus norvegicus
Y279WRALGYAKAIN3Homo sapiens, Mus musculus, Rattus norvegicus
Y505ACALLYFTGSA3Homo sapiens, Mus musculus, Rattus norvegicus


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