|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for PTGIS |
 Gene summary |
| Basic gene Info. | Gene symbol | PTGIS |
| Gene name | prostaglandin I2 (prostacyclin) synthase | |
| Synonyms | CYP8|CYP8A1|PGIS|PTGI | |
| Cytomap | UCSC genome browser: 20q13.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000961.3, | |
| Description | cytochrome P450, family 8, subfamily A, polypeptide 1prostacyclin synthaseprostaglandin I2 synthase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601699 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000124212 | ||
| HPRD : 09046 | ||
| Vega : OTTHUMG00000033077 | ||
| Protein | UniProt: Q16647 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PTGIS | |
| BioGPS: 5740 | ||
| Pathway | NCI Pathway Interaction Database: PTGIS | |
| KEGG: PTGIS | ||
| REACTOME: PTGIS | ||
| Pathway Commons: PTGIS | ||
| Context | iHOP: PTGIS | |
| ligand binding site mutation search in PubMed: PTGIS | ||
| UCL Cancer Institute: PTGIS | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0001516 | prostaglandin biosynthetic process | 20122998 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 20159982 | GO:0035360 | positive regulation of peroxisome proliferator activated receptor signaling pathway | 11551955 | GO:0045019 | negative regulation of nitric oxide biosynthetic process | 20159982 | GO:0050728 | negative regulation of inflammatory response | 20159982 | GO:0071456 | cellular response to hypoxia | 21296955 | GO:0097190 | apoptotic signaling pathway | 11551955 | GO:1900119 | positive regulation of execution phase of apoptosis | 11551955 |
| Top |
| 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 |
| LBS | AAchange of nsSNV | Cancer type | # samples | L485 | M486T | HNSC | 1 | P433 | P433S | LUAD | 1 | P355 | A353D | LUAD | 1 | N287 | N287D | UCEC | 1 | A291 | F293L | UCEC | 1 |
| 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. |
| Top |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | A291 | F293L | 0.040641908 | P433 | P433S | -1.3208118 | N287 | N287D | -1.1670542 | L485 | M486T | -0.38243337 | P355 | A353D | -0.27848657 |
| (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 |
| Top |
| 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) |
| Top |
| Top |
| Phenotype information for PTGIS |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0085580 | Hypertension, Essential | 3 | Biomarker, GeneticVariation |
| umls:C0024121 | Lung Neoplasms | 3 | Biomarker, GeneticVariation, Therapeutic |
| umls:C0013274 | Ductus Arteriosus, Patent | 1 | Biomarker, GeneticVariation |
| umls:C0000786 | Abortion, Spontaneous | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Approved|vet_approved | DB00812 | Phenylbutazone | Small molecule |  |
| Approved | DB01240 | Epoprostenol | Small molecule |  |
| Experimental | DB08675 | (6E)-7-{6-[(1E)-OCT-1-ENYL]-2,3-DIAZABICYCLO[2.2.1]HEPT-2-EN-5-YL}HEPT-6-ENOIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of PTGIS go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MXD | MINOXIDIL | 3b6h | A | N287 | MXD | MINOXIDIL | 3b6h | B | N287 | HEM | HEME B | 2iag | A | N287 A291 P355 P433 L485 | HEM | HEME B | 2iag | B | N287 P355 P433 L485 | HEM | HEME B | 3b6h | A | N287 P433 L485 | HEM | HEME B | 3b6h | B | N287 P433 L485 |
| Top |
| Conservation information for LBS of PTGIS |
| Multiple alignments for Q16647 in multiple species |
| LBS | AA sequence | # species | Species | A100 | DFHPYAIFLME | 2 | Mus musculus, Rattus norvegicus | A100 | DFHAYAIFLME | 1 | Homo sapiens | A100 | DFHAYAVFLME | 1 | Bos taurus | A283 | VLQLWATQGNM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A291 | GNMGPAAFWLL | 2 | Homo sapiens, Bos taurus | A291 | GNMGPTAFWLL | 2 | Mus musculus, Rattus norvegicus | A447 | LGKSYAINSIK | 2 | Mus musculus, Rattus norvegicus | A447 | LGRSYAVNSIK | 1 | Homo sapiens | A447 | LGKGYAVNSIK | 1 | Bos taurus | C441 | AGHNQCLGKSY | 2 | Mus musculus, Rattus norvegicus | C441 | AGHNHCLGRSY | 1 | Homo sapiens | C441 | AGHNQCLGKGY | 1 | Bos taurus | G435 | YNMPWGAGHNQ | 2 | Mus musculus, Rattus norvegicus | G435 | YNMPWGAGHNH | 1 | Homo sapiens | G435 | YSLPWGAGHNQ | 1 | Bos taurus | G443 | HNQCLGKSYAI | 2 | Mus musculus, Rattus norvegicus | G443 | HNHCLGRSYAV | 1 | Homo sapiens | G443 | HNQCLGKGYAV | 1 | Bos taurus | H440 | GAGHNQCLGKS | 2 | Mus musculus, Rattus norvegicus | H440 | GAGHNHCLGRS | 1 | Homo sapiens | H440 | GAGHNQCLGKG | 1 | Bos taurus | I451 | YAVNSIKQFVF | 2 | Homo sapiens, Bos taurus | I451 | YAINSIKQFVV | 2 | Mus musculus, Rattus norvegicus | K121 | NPSEEKARMKP | 2 | Mus musculus, Rattus norvegicus | K121 | SPSDEKARMKL | 1 | Homo sapiens | K121 | NPGDEKSKMKP | 1 | Bos taurus | L103 | PYAIFLMERIF | 2 | Mus musculus, Rattus norvegicus | L103 | AYAIFLMERIF | 1 | Homo sapiens | L103 | AYAVFLMERIF | 1 | Bos taurus | L128 | RMKLTLLHREL | 1 | Homo sapiens | L128 | RMKPTLMHRDL | 1 | Mus musculus | L128 | RMKPTLMHKDL | 1 | Rattus norvegicus | L128 | KMKPTLLHKEL | 1 | Bos taurus | L180 | AGYLTLYGVEA | 2 | Mus musculus, Rattus norvegicus | L180 | AGYLTLYGIEA | 1 | Homo sapiens | L180 | AGYLTQYGVEA | 1 | Bos taurus | L442 | GHNQCLGKSYA | 2 | Mus musculus, Rattus norvegicus | L442 | GHNHCLGRSYA | 1 | Homo sapiens | L442 | GHNQCLGKGYA | 1 | Bos taurus | L485 | RYGFGLMQPEH | 2 | Homo sapiens, Bos taurus | L485 | RYGFGLMQPEE | 2 | Mus musculus, Rattus norvegicus | M124 | EEKARMKPTLM | 2 | Mus musculus, Rattus norvegicus | M124 | DEKARMKLTLL | 1 | Homo sapiens | M124 | DEKSKMKPTLL | 1 | Bos taurus | M288 | ATQGNMGPAAF | 2 | Homo sapiens, Bos taurus | M288 | ATQGNMGPTAF | 2 | Mus musculus, Rattus norvegicus | N287 | WATQGNMGPAA | 2 | Homo sapiens, Bos taurus | N287 | WATQGNMGPTA | 2 | Mus musculus, Rattus norvegicus | N439 | WGAGHNQCLGK | 3 | Mus musculus, Rattus norvegicus, Bos taurus | N439 | WGAGHNHCLGR | 1 | Homo sapiens | P355 | RLTAAPFITRE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P433 | KNYNMPWGAGH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P433 | KNYSLPWGAGH | 1 | Bos taurus | Q280 | RALVLQLWATQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T284 | LQLWATQGNMG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W434 | NYNMPWGAGHN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W434 | NYSLPWGAGHN | 1 | Bos taurus | Y446 | CLGKSYAINSI | 2 | Mus musculus, Rattus norvegicus | Y446 | CLGRSYAVNSI | 1 | Homo sapiens | Y446 | CLGKGYAVNSI | 1 | Bos taurus | Y99 | LDFHPYAIFLM | 2 | Mus musculus, Rattus norvegicus | Y99 | LDFHAYAIFLM | 1 | Homo sapiens | Y99 | LDFHAYAVFLM | 1 | Bos taurus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |