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 POLRMT
Gene summary
Basic gene Info.Gene symbolPOLRMT
Gene namepolymerase (RNA) mitochondrial (DNA directed)
SynonymsAPOLMT|MTRNAP|MTRPOL|h-mtRPOL
CytomapUCSC genome browser: 19p13.3
Type of geneprotein-coding
RefGenesNM_005035.3,
DescriptionDNA-directed RNA polymerase, mitochondrial
Modification date20141207
dbXrefs MIM : 601778
HGNC : HGNC
Ensembl : ENSG00000099821
HPRD : 03468
Vega : OTTHUMG00000180611
ProteinUniProt: O00411
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_POLRMT
BioGPS: 5442
PathwayNCI Pathway Interaction Database: POLRMT
KEGG: POLRMT
REACTOME: POLRMT
Pathway Commons: POLRMT
ContextiHOP: POLRMT
ligand binding site mutation search in PubMed: POLRMT
UCL Cancer Institute: POLRMT
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:0006390transcription from mitochondrial promoter21278163


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Ligand binding site mutations for POLRMT

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R1113R1113CCOAD1
Q1009Q1009HHNSC1
H1030S1029FLUSC1
H812F813LSKCM1
F285F285LSKCM1
D1151D1151NSTAD1
R822A823PSTAD1
K1012L1014IUCEC1
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 POLRMT
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
R1113R1113C-1.0234225
K1012L1014I-0.93920055
F285F285L-0.7006012
Q1009Q1009H-0.64376223
D1151D1151N-0.64058389
H812F813L-0.29574768
H1030S1029F-0.22834719
R822A823P-0.057542517
(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 POLRMT from PDB

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Differential gene expression and gene-gene network for POLRMT
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 POLRMT and the right PPI network was created from samples without mutations in the LBS of POLRMT. 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 POLRMT
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 POLRMT
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 POLRMT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK)3spaAF285
NUCNucleic Acids4bocAH1030 R1113
NUCNucleic Acids4bocAH812 Q1009 R1113
NUCNucleic Acids4bocAR822 K1012 D1151


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Conservation information for LBS of POLRMT
Multiple alignments for O00411 in multiple species
LBSAA sequence# speciesSpecies
A777MHSLRAEALYR1Homo sapiens
A777RHSLRCDVELK1Arabidopsis thaliana
A777MHSLRSEALYR1Mus musculus
D1151FVSVHDCYWTH1Homo sapiens
D1151FAGVHDSYWTH1Arabidopsis thaliana
D1151FVSVHDCFWTH1Mus musculus
E771QKVAREMHSLR1Homo sapiens
E771NKINRERHSLR1Arabidopsis thaliana
E771LKVAREMHSLR1Mus musculus
E778HSLRAEALYRL1Homo sapiens
E778HSLRCDVELKL1Arabidopsis thaliana
E778HSLRSEALYRL1Mus musculus
F285LVYVLFMVKDA1Homo sapiens
F285-----------1Arabidopsis thaliana
F285LVYVFLMLKDA1Mus musculus
G1000MTVVYGVTRYG2Homo sapiens, Mus musculus
G1000MTSVYGVTYVG1Arabidopsis thaliana
G1005GVTRYGGRLQI2Homo sapiens, Mus musculus
G1005GVTYVGAREQI1Arabidopsis thaliana
G494ALPAQGESFTT1Homo sapiens
G494---NAGDSQEE1Arabidopsis thaliana
G494VLPAQGEPLIQ1Mus musculus
G817HFNHLGSDVAR1Homo sapiens
G817HLNHLSSDLCR1Arabidopsis thaliana
G817HFNHLGSDLAR1Mus musculus
H1030VWEASHYLVRQ2Homo sapiens, Mus musculus
H1030LFAAACYSAKV1Arabidopsis thaliana
H624GILKPHPAYVQ1Homo sapiens
H624GVIECDSLLLA1Arabidopsis thaliana
H624GILKPHPAFTH1Mus musculus
H745QPPEAHLPHSA1Homo sapiens
H745IPEK---PSSE1Arabidopsis thaliana
H745RPARYQLPPGS1Mus musculus
H773VAREMHSLRAE1Homo sapiens
H773INRERHSLRCD1Arabidopsis thaliana
H773VAREMHSLRSE1Mus musculus
H812YPCPPHFNHLG2Homo sapiens, Mus musculus
H812YPMHPHLNHLS1Arabidopsis thaliana
I618RNVQQIGILKP1Homo sapiens
I618KLVRRYGVIEC1Arabidopsis thaliana
I618RSYRQVGILKP1Mus musculus
I620VQQIGILKPHP1Homo sapiens
I620VRRYGVIECDS1Arabidopsis thaliana
I620YRQVGILKPHP1Mus musculus
K1012RLQIEKRLREL2Homo sapiens, Mus musculus
K1012REQIKRRLEEK1Arabidopsis thaliana
K1114KPNTRKQKNGF1Homo sapiens
K1114--DVRKQRTAF1Arabidopsis thaliana
K1114KPNTLKQKNGF1Mus musculus
K1116NTRKQKNGFPP1Homo sapiens
K1116DVRKQRTAFPP1Arabidopsis thaliana
K1116NTLKQKNGFPP1Mus musculus
K278RQGAFKELVYV1Homo sapiens
K278RRRQVKE----1Arabidopsis thaliana
K278RKGSFRELVYV1Mus musculus
K767LAHCQKVAREM1Homo sapiens
K767ARKANKINRER1Arabidopsis thaliana
K767LARCLKVAREM1Mus musculus
L775REMHSLRAEAL1Homo sapiens
L775RERHSLRCDVE1Arabidopsis thaliana
L775REMHSLRSEAL1Mus musculus
L816PHFNHLGSDVA1Homo sapiens
L816PHLNHLSSDLC1Arabidopsis thaliana
L816PHFNHLGSDLA1Mus musculus
M995VKQTVMTVVYG2Homo sapiens, Mus musculus
M995VKQTVMTSVYG1Arabidopsis thaliana
N614--SFRNVQQIG1Homo sapiens
N614YPGSKLVRRYG1Arabidopsis thaliana
N614--SFRSYRQVG1Mus musculus
P811TYPCPPHFNHL2Homo sapiens, Mus musculus
P811AYPMHPHLNHL1Arabidopsis thaliana
Q1009YGGRLQIEKRL2Homo sapiens, Mus musculus
Q1009VGAREQIKRRL1Arabidopsis thaliana
Q322ERCLEQMSQEG1Homo sapiens
Q322EK---EMCEKN1Arabidopsis thaliana
Q322QRCLKQMMEEG1Mus musculus
Q493QALPAQGESFT1Homo sapiens
Q493----NAGDSQE1Arabidopsis thaliana
Q493KVLPAQGEPLI1Mus musculus
Q629HPAYVQLLEKA1Homo sapiens
Q629DSLLLAGLDKS1Arabidopsis thaliana
Q629HPAFTHLLETA1Mus musculus
Q766ELAHCQKVARE1Homo sapiens
Q766SARKANKINRE1Arabidopsis thaliana
Q766ELARCLKVARE1Mus musculus
Q992RKVVKQTVMTV2Homo sapiens, Mus musculus
Q992RKLVKQTVMTS1Arabidopsis thaliana
R1059LTESARLISHM1Homo sapiens
R1059LGDCAKIIASD1Arabidopsis thaliana
R1059LTESANLISHA1Mus musculus
R1113RKPNTRKQKNG1Homo sapiens
R1113---DVRKQRTA1Arabidopsis thaliana
R1113QKPNTLKQKNG1Mus musculus
R318AGTIERCLEQM1Homo sapiens
R318YRDLEK---EM1Arabidopsis thaliana
R318VRTIQRCLKQM1Mus musculus
R613---SFRNVQQI1Homo sapiens
R613KYPGSKLVRRY1Arabidopsis thaliana
R613---SFRSYRQV1Mus musculus
R672PTKLMRTVEGA1Homo sapiens
R672PSYIMRT-HGS1Arabidopsis thaliana
R672STKLMRATEGT1Mus musculus
R759RKAELRRELAH1Homo sapiens
R759ELQSWKWSARK1Arabidopsis thaliana
R759HKSELRKELAR1Mus musculus
R770CQKVAREMHSL1Homo sapiens
R770ANKINRERHSL1Arabidopsis thaliana
R770CLKVAREMHSL1Mus musculus
R803HNMDFRGRTYP2Homo sapiens, Mus musculus
R803HNLDFRGRAYP1Arabidopsis thaliana
R822GSDVARALLEF1Homo sapiens
R822SSDLCRGTLEF1Arabidopsis thaliana
R822GSDLARALLEF1Mus musculus
S611-----SFRNVQ1Homo sapiens
S611VTKYPGSKLVR1Arabidopsis thaliana
S611-----SFRSYR1Mus musculus
S774AREMHSLRAEA1Homo sapiens
S774NRERHSLRCDV1Arabidopsis thaliana
S774AREMHSLRSEA1Mus musculus
S818FNHLGSDVARA1Homo sapiens
S818LNHLSSDLCRG1Arabidopsis thaliana
S818FNHLGSDLARA1Mus musculus
T1002VVYGVTRYGGR2Homo sapiens, Mus musculus
T1002SVYGVTYVGAR1Arabidopsis thaliana
T498QGESFTTLARE1Homo sapiens
T498AGDSQEELKEK1Arabidopsis thaliana
T498QGEPLIQLAHN1Mus musculus
T996KQTVMTVVYGV2Homo sapiens, Mus musculus
T996KQTVMTSVYGV1Arabidopsis thaliana
V1001TVVYGVTRYGG2Homo sapiens, Mus musculus
V1001TSVYGVTYVGA1Arabidopsis thaliana
V1149LTFVSVHDCYW1Homo sapiens
V1149LNFAGVHDSYW1Arabidopsis thaliana
V1149LIFVSVHDCFW1Mus musculus
V281AFKELVYVLFM1Homo sapiens
V281QVKE-------1Arabidopsis thaliana
V281SFRELVYVFLM1Mus musculus
W1026QE-FVWEASHY2Homo sapiens, Mus musculus
W1026DERMLFAAACY1Arabidopsis thaliana
Y1004YGVTRYGGRLQ2Homo sapiens, Mus musculus
Y1004YGVTYVGAREQ1Arabidopsis thaliana
Y781RAEALYRLSLA1Homo sapiens
Y781RCDVELKLSVA1Arabidopsis thaliana
Y781RSEALYRLSLA1Mus musculus
Y807FRGRTYPCPPH2Homo sapiens, Mus musculus
Y807FRGRAYPMHPH1Arabidopsis thaliana


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