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 POLH
Gene summary
Basic gene Info.Gene symbolPOLH
Gene namepolymerase (DNA directed), eta
SynonymsRAD30|RAD30A|XP-V|XPV
CytomapUCSC genome browser: 6p21.1
Type of geneprotein-coding
RefGenesNM_001291969.1,
NM_001291970.1,NM_006502.2,
DescriptionDNA polymerase etaRAD30 homolog Axeroderma pigmentosum variant type protein
Modification date20141219
dbXrefs MIM : 603968
HGNC : HGNC
Ensembl : ENSG00000170734
HPRD : 04913
Vega : OTTHUMG00000014743
ProteinUniProt: Q9Y253
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_POLH
BioGPS: 5429
PathwayNCI Pathway Interaction Database: POLH
KEGG: POLH
REACTOME: POLH
Pathway Commons: POLH
ContextiHOP: POLH
ligand binding site mutation search in PubMed: POLH
UCL Cancer Institute: POLH
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:0000731DNA synthesis involved in DNA repair17563354
GO:0010225response to UV-C17563354


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Ligand binding site mutations for POLH
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
H397D398YBLCA1
D13D13GCOAD1
R383R383CCOAD1
Y52S51RCOAD1
D15D15GCOAD1
R377R377CCOAD1
C635E636KHNSC1
R351T353ASTAD1
I255R253CSTAD1
H654H654NUCEC1
R93R93WUCEC1
R377K376EUCEC1
M14M14TUCEC1
H397S396IUCEC1
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 POLH
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
Y52S51R0.11014431
M14M14T-1.7260639
C635E636K-1.5106602
D15D15G-1.4217502
R351T353A-1.2106901
I255R253C-1.1635243
R377R377C-0.98995087
R383R383C-0.97252658
H654H654N-0.86470044
R93R93W-0.81669497
D13D13G-0.81177015
H397D398Y-0.35245438
H397S396I-0.35093044
R377K376E-0.050288272
(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 POLH from PDB

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Differential gene expression and gene-gene network for POLH
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 POLH and the right PPI network was created from samples without mutations in the LBS of POLH. 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 POLH
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0043346Xeroderma Pigmentosum26Biomarker, GeneticVariation
umls:C1848410Xeroderma pigmentosum, variant type5Biomarker, GeneticVariation

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

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Pharmacological information for POLH
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 POLH go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)3wupAC635 H654
MGMAGNESIUM(2+)3mr2AD13
MGMAGNESIUM(2+)3mr3AD13
MGMAGNESIUM(2+)3mr5AD13
MGMAGNESIUM(2+)3mr6AD13
MGMAGNESIUM(2+)3si8AD13
MGMAGNESIUM(2+)4dl2AD13
MGMAGNESIUM(2+)4dl3AD13
MGMAGNESIUM(2+)4dl4AD13
MGMAGNESIUM(2+)4dl5AD13
MGMAGNESIUM(2+)4dl6AD13
MGMAGNESIUM(2+)4ecrAD13
MGMAGNESIUM(2+)4ecsAD13
MGMAGNESIUM(2+)4ectAD13
MGMAGNESIUM(2+)4ecuAD13
MGMAGNESIUM(2+)4ecvAD13
MGMAGNESIUM(2+)4ecwAD13
MGMAGNESIUM(2+)4ecxAD13
MGMAGNESIUM(2+)4ed8AD13
MGMAGNESIUM(2+)4j9kAD13
MGMAGNESIUM(2+)4j9lAD13
MGMAGNESIUM(2+)4j9mAD13
MGMAGNESIUM(2+)4j9nAD13
MGMAGNESIUM(2+)4j9oAD13
MGMAGNESIUM(2+)4j9qAD13
MGMAGNESIUM(2+)4o3nAD13
MGMAGNESIUM(2+)4o3oAD13
MGMAGNESIUM(2+)4o3pAD13
MGMAGNESIUM(2+)4o3qAD13
MGMAGNESIUM(2+)4o3rAD13
MGMAGNESIUM(2+)4o3sAD13
MGMAGNESIUM(2+)4q8eAD13
MGMAGNESIUM(2+)4q8fAD13
MGMAGNESIUM(2+)4rnmAD13
MGMAGNESIUM(2+)4rnnAD13
CACALCIUM(2+)4yp3AD13
CACALCIUM(2+)4yqwAD13
CACALCIUM(2+)4yr0AD13
CACALCIUM(2+)4yr2AD13
CACALCIUM(2+)4yr3AD13
MGMAGNESIUM(2+)4ru9AD13
MGMAGNESIUM(2+)3jaaAD13
CACALCIUM(2+)5eweAD13
MGMAGNESIUM(2+)3mr2AD13 M14
MGMAGNESIUM(2+)3mr3AD13 M14
MGMAGNESIUM(2+)3mr5AD13 M14
MGMAGNESIUM(2+)3mr6AD13 M14
MGMAGNESIUM(2+)3si8AD13 M14
MGMAGNESIUM(2+)4dl2AD13 M14
MGMAGNESIUM(2+)4dl3AD13 M14
MGMAGNESIUM(2+)4dl4AD13 M14
MGMAGNESIUM(2+)4dl5AD13 M14
MGMAGNESIUM(2+)4dl6AD13 M14
CACALCIUM(2+)4ecqAD13 M14
CACALCIUM(2+)4ecrAD13 M14
MGMAGNESIUM(2+)4ecrAD13 M14
CACALCIUM(2+)4ecsAD13 M14
MGMAGNESIUM(2+)4ecsAD13 M14
CACALCIUM(2+)4ectAD13 M14
MGMAGNESIUM(2+)4ectAD13 M14
CACALCIUM(2+)4ecuAD13 M14
MGMAGNESIUM(2+)4ecuAD13 M14
CACALCIUM(2+)4ecvAD13 M14
MGMAGNESIUM(2+)4ecvAD13 M14
CACALCIUM(2+)4ecwAD13 M14
MGMAGNESIUM(2+)4ecwAD13 M14
CACALCIUM(2+)4ecxAD13 M14
MGMAGNESIUM(2+)4ecxAD13 M14
CACALCIUM(2+)4ecyAD13 M14
CACALCIUM(2+)4eczAD13 M14
CACALCIUM(2+)4ed0AD13 M14
CACALCIUM(2+)4ed1AD13 M14
CACALCIUM(2+)4ed2AD13 M14
CACALCIUM(2+)4ed3AD13 M14
CACALCIUM(2+)4ed7AD13 M14
CACALCIUM(2+)4ed8AD13 M14
MGMAGNESIUM(2+)4ed8AD13 M14
MGMAGNESIUM(2+)4eeyAD13 M14
MGMAGNESIUM(2+)4j9kAD13 M14
MGMAGNESIUM(2+)4j9lAD13 M14
MGMAGNESIUM(2+)4j9mAD13 M14
MGMAGNESIUM(2+)4j9nAD13 M14
MGMAGNESIUM(2+)4j9oAD13 M14
MGMAGNESIUM(2+)4o3nAD13 M14
MGMAGNESIUM(2+)4o3oAD13 M14
MGMAGNESIUM(2+)4o3pAD13 M14
MGMAGNESIUM(2+)4o3qAD13 M14
MGMAGNESIUM(2+)4o3rAD13 M14
MGMAGNESIUM(2+)4o3sAD13 M14
MGMAGNESIUM(2+)4q8eAD13 M14
MGMAGNESIUM(2+)4q8fAD13 M14
MGMAGNESIUM(2+)4rnmAD13 M14
MGMAGNESIUM(2+)4rnnAD13 M14
CACALCIUM(2+)4rnoAD13 M14
CACALCIUM(2+)4yp3AD13 M14
CACALCIUM(2+)4yqwAD13 M14
CACALCIUM(2+)4yr0AD13 M14
CACALCIUM(2+)4yr2AD13 M14
CACALCIUM(2+)4yr3AD13 M14
MGMAGNESIUM(2+)4ru9AD13 M14
MGMAGNESIUM(2+)3jaaAD13 M14
CACALCIUM(2+)5eweAD13 M14
CACALCIUM(2+)5ewfAD13 M14
CACALCIUM(2+)5ewgAD13 M14
DZ42'-DEOXY-5'-O-[(R)-HYDROXY{[(R)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE3mr2AD13 M14 D15 Y52
DZ42'-DEOXY-5'-O-[(R)-HYDROXY{[(R)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE3mr3AD13 M14 D15 Y52
XG4DGMPNPP3mr5AD13 M14 D15 Y52
XG4DGMPNPP3mr6AD13 M14 D15 Y52
DZ42'-DEOXY-5'-O-[(R)-HYDROXY{[(R)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE3si8AD13 M14 D15 Y52
0KXDCMPNPP4dl2AD13 M14 D15 Y52
0KXDCMPNPP4dl3AD13 M14 D15 Y52
0KXDCMPNPP4dl4AD13 M14 D15 Y52
0KXDCMPNPP4dl5AD13 M14 D15 Y52
XG4DGMPNPP4dl6AD13 M14 D15 Y52
DTPDATP(4-)4ecqAD13 M14 D15 Y52
DTPDATP(4-)4ecrAD13 M14 D15 Y52
DTPDATP(4-)4ecsAD13 M14 D15 Y52
DTPDATP(4-)4ectAD13 M14 D15 Y52
DTPDATP(4-)4ecuAD13 M14 D15 Y52
DTPDATP(4-)4ecvAD13 M14 D15 Y52
DTPDATP(4-)4ecwAD13 M14 D15 Y52
DTPDATP(4-)4ecxAD13 M14 D15 Y52
DTPDATP(4-)4eczAD13 M14 D15 Y52
DTPDATP(4-)4ed0AD13 M14 D15 Y52
DTPDATP(4-)4ed1AD13 M14 D15 Y52
DTPDATP(4-)4ed2AD13 M14 D15 Y52
DTPDATP(4-)4ed3AD13 M14 D15 Y52
DTPDATP(4-)4ed8AD13 M14 D15 Y52
DCPDCTP4eeyAD13 M14 D15 Y52
XG4DGMPNPP4j9kAD13 M14 D15 Y52
XG4DGMPNPP4j9lAD13 M14 D15 Y52
XG4DGMPNPP4j9mAD13 M14 D15 Y52
XG4DGMPNPP4j9nAD13 M14 D15 Y52
DZ42'-DEOXY-5'-O-[(R)-HYDROXY{[(R)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE4j9oAD13 M14 D15 Y52
0KXDCMPNPP4o3nAD13 M14 D15 Y52
DZ42'-DEOXY-5'-O-[(R)-HYDROXY{[(R)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE4o3oAD13 M14 D15 Y52
0KXDCMPNPP4o3pAD13 M14 D15 Y52
XG4DGMPNPP4o3qAD13 M14 D15 Y52
0KXDCMPNPP4o3rAD13 M14 D15 Y52
0KXDCMPNPP4o3sAD13 M14 D15 Y52
0KXDCMPNPP4q8eAD13 M14 D15 Y52
XG4DGMPNPP4q8fAD13 M14 D15 Y52
DZ42'-DEOXY-5'-O-[(R)-HYDROXY{[(R)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE4rnmAD13 M14 D15 Y52
XG4DGMPNPP4rnnAD13 M14 D15 Y52
DCPDCTP4yp3AD13 M14 D15 Y52
DCPDCTP4yqwAD13 M14 D15 Y52
DCPDCTP4yr0AD13 M14 D15 Y52
DTPDATP(4-)4yr2AD13 M14 D15 Y52
DCPDCTP4yr3AD13 M14 D15 Y52
0KXDCMPNPP4ru9AD13 M14 D15 Y52
DZ42'-DEOXY-5'-O-[(R)-HYDROXY{[(R)-HYDROXY(PHOSPHONOOXY)PHOSPHORYL]AMINO}PHOSPHORYL]ADENOSINE3jaaAD13 M14 D15 Y52
CTPCTP5eweAD13 M14 D15 Y52
CTPCTP5ewfAD13 M14 D15 Y52
ATPATP5ewgAD13 M14 D15 Y52
DCPDCTP4rnoAD13 M14 Y52
NUCNucleic Acids4ecsAD13 R377
NUCNucleic Acids4ecvAD13 R377
NUCNucleic Acids4ectAD13 R377 R383
NUCNucleic Acids4ecuAD13 R377 R383
NUCNucleic Acids4ecwAD13 R377 R383
NUCNucleic Acids4ecxAD13 R377 R383
NUCNucleic Acids4j9pAD13 R377 R383
COCOBALT(2+)3si8AH397
NUCNucleic Acids4rnoAI255 R377 R383
DTPDATP(4-)4ecyAM14 D15 Y52
DTPDATP(4-)4ed7AM14 D15 Y52
NUCNucleic Acids3si8AR351
NUCNucleic Acids4q8fAR351
NUCNucleic Acids5ewfAR351
NUCNucleic Acids4dl4AR377
NUCNucleic Acids4dl6AR377
NUCNucleic Acids4ecqAR377
NUCNucleic Acids4ecyAR377
NUCNucleic Acids4eczAR377
NUCNucleic Acids4ed0AR377
NUCNucleic Acids4ed3AR377
NUCNucleic Acids4ed7AR377
NUCNucleic Acids4j9oAR377
NUCNucleic Acids4j9rAR377
NUCNucleic Acids4j9sAR377
NUCNucleic Acids4q8eAR377
NUCNucleic Acids3mr2AR377 R383
NUCNucleic Acids3mr3AR377 R383
NUCNucleic Acids3mr6AR377 R383
NUCNucleic Acids3si8AR377 R383
NUCNucleic Acids3tq1AR377 R383
NUCNucleic Acids4dl2AR377 R383
NUCNucleic Acids4dl3AR377 R383
NUCNucleic Acids4ecrAR377 R383
NUCNucleic Acids4ed1AR377 R383
NUCNucleic Acids4ed2AR377 R383
NUCNucleic Acids4ed6AR377 R383
NUCNucleic Acids4ed8AR377 R383
NUCNucleic Acids4eeyAR377 R383
NUCNucleic Acids4j9kAR377 R383
NUCNucleic Acids4j9lAR377 R383
NUCNucleic Acids4j9mAR377 R383
NUCNucleic Acids4j9nAR377 R383
NUCNucleic Acids4j9qAR377 R383
NUCNucleic Acids4o3nAR377 R383
NUCNucleic Acids4o3pAR377 R383
NUCNucleic Acids4o3qAR377 R383
NUCNucleic Acids4o3rAR377 R383
NUCNucleic Acids4rnmAR377 R383
NUCNucleic Acids4rnnAR377 R383
NUCNucleic Acids4yqwAR377 R383
NUCNucleic Acids4yr0AR377 R383
NUCNucleic Acids3jaaAR377 R383
NUCNucleic Acids5eweAR377 R383
NUCNucleic Acids5ewfAR377 R383
NUCNucleic Acids5ewgAR377 R383
NUCNucleic Acids4o3oAR383
NUCNucleic Acids4o3sAR383
NUCNucleic Acids4q8fAR383
NUCNucleic Acids4yp3AR383
NUCNucleic Acids4yr3AR383
NUCNucleic Acids4ru9AR383
NUCNucleic Acids3mr2AR93 R351
NUCNucleic Acids3mr3AR93 R351
NUCNucleic Acids3mr5AR93 R351
NUCNucleic Acids3mr6AR93 R351
NUCNucleic Acids3tq1AR93 R351
NUCNucleic Acids4dl2AR93 R351
NUCNucleic Acids4dl3AR93 R351
NUCNucleic Acids4dl4AR93 R351
NUCNucleic Acids4dl5AR93 R351
NUCNucleic Acids4dl6AR93 R351
NUCNucleic Acids4dl7AR93 R351
NUCNucleic Acids4ecqAR93 R351
NUCNucleic Acids4ecrAR93 R351
NUCNucleic Acids4ecsAR93 R351
NUCNucleic Acids4ectAR93 R351
NUCNucleic Acids4ecuAR93 R351
NUCNucleic Acids4ecvAR93 R351
NUCNucleic Acids4ecwAR93 R351
NUCNucleic Acids4ecxAR93 R351
NUCNucleic Acids4ecyAR93 R351
NUCNucleic Acids4eczAR93 R351
NUCNucleic Acids4ed0AR93 R351
NUCNucleic Acids4ed1AR93 R351
NUCNucleic Acids4ed2AR93 R351
NUCNucleic Acids4ed3AR93 R351
NUCNucleic Acids4ed6AR93 R351
NUCNucleic Acids4ed7AR93 R351
NUCNucleic Acids4ed8AR93 R351
NUCNucleic Acids4eeyAR93 R351
NUCNucleic Acids4j9kAR93 R351
NUCNucleic Acids4j9lAR93 R351
NUCNucleic Acids4j9mAR93 R351
NUCNucleic Acids4j9nAR93 R351
NUCNucleic Acids4j9oAR93 R351
NUCNucleic Acids4j9pAR93 R351
NUCNucleic Acids4j9qAR93 R351
NUCNucleic Acids4j9rAR93 R351
NUCNucleic Acids4j9sAR93 R351
NUCNucleic Acids4o3nAR93 R351
NUCNucleic Acids4o3oAR93 R351
NUCNucleic Acids4o3pAR93 R351
NUCNucleic Acids4o3qAR93 R351
NUCNucleic Acids4o3rAR93 R351
NUCNucleic Acids4o3sAR93 R351
NUCNucleic Acids4q8eAR93 R351
NUCNucleic Acids4rnmAR93 R351
NUCNucleic Acids4rnnAR93 R351
NUCNucleic Acids4rnoAR93 R351
NUCNucleic Acids4yp3AR93 R351
NUCNucleic Acids4yqwAR93 R351
NUCNucleic Acids4yr0AR93 R351
NUCNucleic Acids4yr2AR93 R351
NUCNucleic Acids4yr3AR93 R351
NUCNucleic Acids4ru9AR93 R351
NUCNucleic Acids3jaaAR93 R351
NUCNucleic Acids5eweAR93 R351
NUCNucleic Acids5ewgAR93 R351


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Conservation information for LBS of POLH
Multiple alignments for Q9Y253 in multiple species
LBSAA sequence# speciesSpecies


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