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 PAPOLG
Gene summary
Basic gene Info.Gene symbolPAPOLG
Gene namepoly(A) polymerase gamma
Synonyms-
CytomapUCSC genome browser: 2p16.1
Type of geneprotein-coding
RefGenesNM_022894.3,
DescriptionPAP-gammaSRP RNA 3' adenylating enzyme/pap2SRP RNA 3'-adenylating enzymeneo-PAPneo-poly(A) polymerasenuclear poly(A) polymerase gammapolynucleotide adenylyltransferase gamma
Modification date20141215
dbXrefs HGNC : HGNC
Ensembl : ENSG00000115421
HPRD : 11420
Vega : OTTHUMG00000129419
ProteinUniProt: Q9BWT3
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PAPOLG
BioGPS: 64895
PathwayNCI Pathway Interaction Database: PAPOLG
KEGG: PAPOLG
REACTOME: PAPOLG
Pathway Commons: PAPOLG
ContextiHOP: PAPOLG
ligand binding site mutation search in PubMed: PAPOLG
UCL Cancer Institute: PAPOLG
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:0043631RNA polyadenylation11287430


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Ligand binding site mutations for PAPOLG

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S324S324YCOAD1
Y236N238SUCEC1
S324T325MUCEC1
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 PAPOLG
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
S324T325M-1.3192252
S324S324Y-0.19368585
Y236N238S-0.13966897
(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 PAPOLG from PDB

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Differential gene expression and gene-gene network for PAPOLG
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 PAPOLG and the right PPI network was created from samples without mutations in the LBS of PAPOLG. 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 PAPOLG
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 PAPOLG
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 PAPOLG go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
3ATCORDYCEPIN TRIPHOSPHATE4lt6AY236 S324
3ATCORDYCEPIN TRIPHOSPHATE4lt6BY236 S324


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Conservation information for LBS of PAPOLG
Multiple alignments for Q9BWT3 in multiple species
LBSAA sequence# speciesSpecies
D112HTKGADIDALC2Homo sapiens, Mus musculus
D112HGPGADIDTLC1Arabidopsis thaliana
D112HGPGSDIDTLV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D112YGPGSDIDTLV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D114KGADIDALCVA2Homo sapiens, Mus musculus
D114PGSDIDTLVVV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D114PGADIDTLCVG1Arabidopsis thaliana
F99GKIFTFGSYRL2Homo sapiens, Mus musculus
F99GKIFTYGSYRL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F99AKIFTFGSYRL1Arabidopsis thaliana
G100KIFTFGSYRLG3Homo sapiens, Mus musculus, Arabidopsis thaliana
G100KIFTYGSYRLG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K227TLRAVKLWAKR2Homo sapiens, Mus musculus
K227TLRCMRFWAKR1Arabidopsis thaliana
K227ALRAIKLWAQR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K227ALRAIKFWAQR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N201CIRSLNGCRVT2Homo sapiens, Mus musculus
N201TVRSLNGCRVT1Arabidopsis thaliana
N201DLRALNGTRVT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N201CVLSLNGTRVT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S101IFTFGSYRLGV3Homo sapiens, Mus musculus, Arabidopsis thaliana
S101IFTYGSYRLGV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S324YPQQNSTYNVS2Homo sapiens, Mus musculus
S324YPSMCATHNIT2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S324YPCMNSSYNVS1Arabidopsis thaliana
V205LNGCRVTDEIL2Homo sapiens, Mus musculus
V205LNGCRVTDQIL1Arabidopsis thaliana
V205LNGTRVTDEIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V205LNGTRVTDQIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V246GFLGGVSWAML2Homo sapiens, Mus musculus
V246GFLGGINWALL1Arabidopsis thaliana
V246GFPGGVAWAML1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V246GFPGGVAWAMM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y236KRRGIYSNMLG2Homo sapiens, Mus musculus
Y236KRRGVYSNVSG1Arabidopsis thaliana
Y236QRRAVYANIFG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y236QRRAIYANVVG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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