mutated Ligand Binding Site gene DataBase





About Us

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 PTGIS
Gene summary
Basic gene Info.Gene symbolPTGIS
Gene nameprostaglandin I2 (prostacyclin) synthase
CytomapUCSC genome browser: 20q13.13
Type of geneprotein-coding
Descriptioncytochrome P450, family 8, subfamily A, polypeptide 1prostacyclin synthaseprostaglandin I2 synthase
Modification date20141207
dbXrefs MIM : 601699
Ensembl : ENSG00000124212
HPRD : 09046
Vega : OTTHUMG00000033077
ProteinUniProt: Q16647
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PTGIS
BioGPS: 5740
PathwayNCI Pathway Interaction Database: PTGIS
Pathway Commons: PTGIS
ContextiHOP: PTGIS
ligand binding site mutation search in PubMed: PTGIS
UCL Cancer Institute: PTGIS
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0001516prostaglandin biosynthetic process20122998
GO:0032088negative regulation of NF-kappaB transcription factor activity20159982
GO:0035360positive regulation of peroxisome proliferator activated receptor signaling pathway11551955
GO:0045019negative regulation of nitric oxide biosynthetic process20159982
GO:0050728negative regulation of inflammatory response20159982
GO:0071456cellular response to hypoxia21296955
GO:0097190apoptotic signaling pathway11551955
GO:1900119positive regulation of execution phase of apoptosis11551955

Ligand binding site mutations for PTGIS
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
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.

Protein structure related information for PTGIS
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
(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 PTGIS from PDB

Differential gene expression and gene-gene network for PTGIS
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 PTGIS and the right PPI network was created from samples without mutations in the LBS of PTGIS. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for PTGIS
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0085580Hypertension, Essential3Biomarker, GeneticVariation
umls:C0024121Lung Neoplasms3Biomarker, GeneticVariation, Therapeutic
umls:C0013274Ductus Arteriosus, Patent1Biomarker, GeneticVariation
umls:C0000786Abortion, Spontaneous1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

Pharmacological information for PTGIS
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|vet_approvedDB00812PhenylbutazoneSmall molecule
ApprovedDB01240EpoprostenolSmall molecule
ExperimentalDB08675(6E)-7-{6-[(1E)-OCT-1-ENYL]-2,3-DIAZABICYCLO[2.2.1]HEPT-2-EN-5-YL}HEPT-6-ENOIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PTGIS go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
HEMHEME B2iagAN287 A291 P355 P433 L485
HEMHEME B2iagBN287 P355 P433 L485
HEMHEME B3b6hAN287 P433 L485
HEMHEME B3b6hBN287 P433 L485

Conservation information for LBS of PTGIS
Multiple alignments for Q16647 in multiple species
LBSAA sequence# speciesSpecies
A100DFHPYAIFLME2Mus musculus, Rattus norvegicus
A100DFHAYAIFLME1Homo sapiens
A100DFHAYAVFLME1Bos taurus
A283VLQLWATQGNM4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A291GNMGPAAFWLL2Homo sapiens, Bos taurus
A291GNMGPTAFWLL2Mus musculus, Rattus norvegicus
A447LGKSYAINSIK2Mus musculus, Rattus norvegicus
A447LGRSYAVNSIK1Homo sapiens
A447LGKGYAVNSIK1Bos taurus
C441AGHNQCLGKSY2Mus musculus, Rattus norvegicus
C441AGHNHCLGRSY1Homo sapiens
C441AGHNQCLGKGY1Bos taurus
G435YNMPWGAGHNQ2Mus musculus, Rattus norvegicus
G435YNMPWGAGHNH1Homo sapiens
G435YSLPWGAGHNQ1Bos taurus
G443HNQCLGKSYAI2Mus musculus, Rattus norvegicus
G443HNHCLGRSYAV1Homo sapiens
G443HNQCLGKGYAV1Bos taurus
H440GAGHNQCLGKS2Mus musculus, Rattus norvegicus
H440GAGHNHCLGRS1Homo sapiens
H440GAGHNQCLGKG1Bos taurus
I451YAVNSIKQFVF2Homo sapiens, Bos taurus
I451YAINSIKQFVV2Mus musculus, Rattus norvegicus
K121NPSEEKARMKP2Mus musculus, Rattus norvegicus
K121SPSDEKARMKL1Homo sapiens
K121NPGDEKSKMKP1Bos taurus
L103PYAIFLMERIF2Mus musculus, Rattus norvegicus
L103AYAIFLMERIF1Homo sapiens
L103AYAVFLMERIF1Bos taurus
L128RMKLTLLHREL1Homo sapiens
L128RMKPTLMHRDL1Mus musculus
L128RMKPTLMHKDL1Rattus norvegicus
L128KMKPTLLHKEL1Bos taurus
L180AGYLTLYGVEA2Mus musculus, Rattus norvegicus
L180AGYLTLYGIEA1Homo sapiens
L180AGYLTQYGVEA1Bos taurus
L442GHNQCLGKSYA2Mus musculus, Rattus norvegicus
L442GHNHCLGRSYA1Homo sapiens
L442GHNQCLGKGYA1Bos taurus
L485RYGFGLMQPEH2Homo sapiens, Bos taurus
L485RYGFGLMQPEE2Mus musculus, Rattus norvegicus
M124EEKARMKPTLM2Mus musculus, Rattus norvegicus
M124DEKARMKLTLL1Homo sapiens
M124DEKSKMKPTLL1Bos taurus
M288ATQGNMGPAAF2Homo sapiens, Bos taurus
M288ATQGNMGPTAF2Mus musculus, Rattus norvegicus
N287WATQGNMGPAA2Homo sapiens, Bos taurus
N287WATQGNMGPTA2Mus musculus, Rattus norvegicus
N439WGAGHNQCLGK3Mus musculus, Rattus norvegicus, Bos taurus
N439WGAGHNHCLGR1Homo sapiens
P355RLTAAPFITRE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
P433KNYNMPWGAGH3Homo sapiens, Mus musculus, Rattus norvegicus
P433KNYSLPWGAGH1Bos taurus
Q280RALVLQLWATQ4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T284LQLWATQGNMG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
W434NYNMPWGAGHN3Homo sapiens, Mus musculus, Rattus norvegicus
W434NYSLPWGAGHN1Bos taurus
Y446CLGKSYAINSI2Mus musculus, Rattus norvegicus
Y446CLGRSYAVNSI1Homo sapiens
Y446CLGKGYAVNSI1Bos taurus
Y99LDFHPYAIFLM2Mus musculus, Rattus norvegicus
Y99LDFHAYAIFLM1Homo sapiens

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas