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 PPOX
Gene summary
Basic gene Info.Gene symbolPPOX
Gene nameprotoporphyrinogen oxidase
SynonymsPPO|V290M|VP
CytomapUCSC genome browser: 1q22
Type of geneprotein-coding
RefGenesNM_000309.3,
NM_001122764.1,
Description-
Modification date20141219
dbXrefs MIM : 600923
HGNC : HGNC
Ensembl : ENSG00000143224
HPRD : 02953
Vega : OTTHUMG00000034342
ProteinUniProt: P50336
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PPOX
BioGPS: 5498
PathwayNCI Pathway Interaction Database: PPOX
KEGG: PPOX
REACTOME: PPOX
Pathway Commons: PPOX
ContextiHOP: PPOX
ligand binding site mutation search in PubMed: PPOX
UCL Cancer Institute: PPOX
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:0006779porphyrin-containing compound biosynthetic process7713909
GO:0006783heme biosynthetic process7713909
GO:0055114oxidation-reduction process7713909


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Ligand binding site mutations for PPOX
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
G345G345RBRCA1
R97Q95HCOAD1
G448G448ALUAD1
G345G345ESKCM1
P256P256RSKCM1
I419P420TSTAD1
G332G332ATHCA1
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 PPOX
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
G448G448A-0.8886156
I419P420T-0.83477706
P256P256R-0.69638125
G332G332A-0.55537674
R97Q95H-0.39403071
G345G345E-0.32713764
G345G345R-0.29991157
(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 PPOX from PDB

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Differential gene expression and gene-gene network for PPOX
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 PPOX and the right PPI network was created from samples without mutations in the LBS of PPOX. 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 PPOX
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0162532Porphyria, Variegate58Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
23743P256RPathogenicGermline-

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Pharmacological information for PPOX
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PPOX go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FADFAD3nksAP256 G448
FADFAD4ivmBP256 G448
FADFAD4ivoBP256 I419 G448
ACJACIFLUORFEN4ivoBR97 G332 G345
ACJACIFLUORFEN3nksAR97 G332 G345 I419
ACJACIFLUORFEN4ivmBR97 G332 G345 I419


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Conservation information for LBS of PPOX
Multiple alignments for P50336 in multiple species
LBSAA sequence# speciesSpecies
A172CRGVFAGNSRE3Homo sapiens, Mus musculus, Bos taurus
A172CSGVYAGDPSK2Arabidopsis thaliana, Oryza sativa subsp. japonica
A172LRGIYGDDVSL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A172INGIYAGDLND1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A285DHVISAIPASV1Homo sapiens
A285DHLRLTITPPK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A285KSVVMTVPSHV1Arabidopsis thaliana
A285KTVVMTIPSYV1Oryza sativa subsp. japonica
A285EYVVFANSSRN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A285DHIISAIPASE1Mus musculus
A285DHIISAIPASV1Bos taurus
A449LTLAGASYE-G3Homo sapiens, Mus musculus, Bos taurus
A449LFLGGNYVA-G2Arabidopsis thaliana, Oryza sativa subsp. japonica
A449VSVGGMGFSRS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A449ILLTGSWYN-G1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A455YE-GVAVNDCI3Homo sapiens, Mus musculus, Bos taurus
A455VA-GVALGRCV2Arabidopsis thaliana, Oryza sativa subsp. japonica
A455FSRSPGVPDVI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A455YN-GVSIGDCI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C418HLHKNCIPQYT2Homo sapiens, Mus musculus
C418RVWPQAIPQFL2Arabidopsis thaliana, Oryza sativa subsp. japonica
C418TIADRCLPRFH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C418TLQQNCIPQYR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C418HLHKNSIPQYT1Bos taurus
C459VAVNDCIESGR3Homo sapiens, Mus musculus, Bos taurus
C459VALGRCVEGAY2Arabidopsis thaliana, Oryza sativa subsp. japonica
C459PGVPDVIVDGF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C459VSIGDCIMNGH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E34KVVLVESSERL1Homo sapiens
E34EITLFESQNRT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E34NLIVTEAKDRV1Arabidopsis thaliana
E34DVLVTEARARP1Oryza sativa subsp. japonica
E34TIDLYEKGPRL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E34KVILVEGSKRL1Mus musculus
E34KVVLVEGSERL1Bos taurus
F331-PVQGFGHLVP3Homo sapiens, Mus musculus, Bos taurus
F331ADLQGFGYLVP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F331GELKGFGQLHP1Arabidopsis thaliana
F331GELQGFGQLHP1Oryza sativa subsp. japonica
F331-PIRGFGLLIP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G11VVLGGGISGLA2Homo sapiens, Bos taurus
G11AVVGGGVSGLC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G11VIVGGGISGLC1Arabidopsis thaliana
G11VVVGGGISGLC1Oryza sativa subsp. japonica
G11AICGGGIAGLS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G11IVLGGGISGLA1Mus musculus
G169DSLCRGVFAGN3Homo sapiens, Mus musculus, Bos taurus
G169EPFCSGVYAGD2Arabidopsis thaliana, Oryza sativa subsp. japonica
G169SALLRGIYGDD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G169SAMINGIYAGD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G332PVQGFGHLVPS3Homo sapiens, Mus musculus, Bos taurus
G332DLQGFGYLVPK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G332ELKGFGQLHPR1Arabidopsis thaliana
G332ELQGFGQLHPR1Oryza sativa subsp. japonica
G332PIRGFGLLIPS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G345GVETLGTIYSS2Arabidopsis thaliana, Oryza sativa subsp. japonica
G345PG-VLGIVYDS1Homo sapiens
G345PGKLLGVIFDS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G345PNHVLGIVFDS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G345PT-VLGIVYDS1Mus musculus
G345PV-ILGIVYDS1Bos taurus
G41SERLGGWIRSV2Homo sapiens, Bos taurus
G41QNRTGGWIYSC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G41KDRVGGNIIT-1Arabidopsis thaliana
G41RARPGGNITTA1Oryza sativa subsp. japonica
G41GPRLGGWLQSV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G41SKRLGGWIRSI1Mus musculus
G448-LTLAGASYE-3Homo sapiens, Mus musculus, Bos taurus
G448GLFLGGNYVA-2Arabidopsis thaliana, Oryza sativa subsp. japonica
G448TVSVGGMGFSR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G448RILLTGSWYN-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G57I-FELGPRGIR3Homo sapiens, Mus musculus, Bos taurus
G57L-WEEGPNSFQ2Arabidopsis thaliana, Oryza sativa subsp. japonica
G57M-LEKGPRTLR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G57VLFEQGPRTLR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G60ELGPRGIRPAG3Homo sapiens, Mus musculus, Bos taurus
G60EEGPNSFQPSD2Arabidopsis thaliana, Oryza sativa subsp. japonica
G60EKGPRTLRGVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G60EQGPRTLRPAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G9TVVVLGGGISG2Homo sapiens, Bos taurus
G9KVAVVGGGVSG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G9DCVIVGGGISG1Arabidopsis thaliana
G9DCVVVGGGISG1Oryza sativa subsp. japonica
G9SIAICGGGIAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G9TVIVLGGGISG1Mus musculus
H333VQGFGHLVPSS3Homo sapiens, Mus musculus, Bos taurus
H333LQGFGYLVPKS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H333LKGFGQLHPRT1Arabidopsis thaliana
H333LQGFGQLHPRS1Oryza sativa subsp. japonica
H333IRGFGLLIPSC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I12VLGGGISGLAA3Homo sapiens, Mus musculus, Bos taurus
I12VVGGGVSGLCF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I12IVGGGISGLCI1Arabidopsis thaliana
I12VVGGGISGLCT1Oryza sativa subsp. japonica
I12ICGGGIAGLST1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I286HVISAIPASVL1Homo sapiens
I286HLRLTITPPKI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I286SVVMTVPSHVA1Arabidopsis thaliana
I286TVVMTIPSYVA1Oryza sativa subsp. japonica
I286YVVFANSSRNL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I286HIISAIPASEL1Mus musculus
I286HIISAIPASVL1Bos taurus
I346VETLGTIYSSS2Arabidopsis thaliana, Oryza sativa subsp. japonica
I346G-VLGIVYDSV1Homo sapiens
I346GKLLGVIFDSV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I346NHVLGIVFDS-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I346T-VLGIVYDSV1Mus musculus
I346V-ILGIVYDSV1Bos taurus
I419LHKNCIPQYTL1Homo sapiens
I419IADRCLPRFHV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I419VWPQAIPQFLV1Arabidopsis thaliana
I419VWPQAIPQFLI1Oryza sativa subsp. japonica
I419LQQNCIPQYRV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I419LHKNCIPQYTI1Mus musculus
I419LHKNSIPQYTL1Bos taurus
L334QGFGHLVPSS-3Homo sapiens, Mus musculus, Bos taurus
L334QGFGYLVPKSN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L334KGFGQLHPRT-1Arabidopsis thaliana
L334QGFGQLHPRS-1Oryza sativa subsp. japonica
L334RGFGLLIPSCT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L344QGVETLGTIYS2Arabidopsis thaliana, Oryza sativa subsp. japonica
L344DPG-VLGIVYD1Homo sapiens
L344NPGKLLGVIFD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L344NPNHVLGIVFD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L344DPT-VLGIVYD1Mus musculus
L344DPV-ILGIVYD1Bos taurus
L56AI-FELGPRGI3Homo sapiens, Mus musculus, Bos taurus
L56IM-LEKGPRTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L56FL-WEEGPNSF1Arabidopsis thaliana
L56YL-WEEGPNSF1Oryza sativa subsp. japonica
L56TVLFEQGPRTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M368-RVTVM--LGG2Homo sapiens, Mus musculus
M368TKVTAM--IGG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M368-RILLLNYIGG1Arabidopsis thaliana
M368-RVLLLNYIGG1Oryza sativa subsp. japonica
M368-KVTVM--MGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M368-RLTVM--LGG1Bos taurus
P256VLRGQPVCGLS1Homo sapiens
P256IVTGNPVTQIM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P256VKLSWKLSGIT1Arabidopsis thaliana
P256VKLSWKLTSIT1Oryza sativa subsp. japonica
P256IHLNKPAKTLV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P256VLSGQPVCGLS1Mus musculus
P256VLQGQPVCGLS1Bos taurus
P58-FELGPRGIRP3Homo sapiens, Mus musculus, Bos taurus
P58-WEEGPNSFQP2Arabidopsis thaliana, Oryza sativa subsp. japonica
P58-LEKGPRTLRG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P58LFEQGPRTLRP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R168MDSLCRGVFAG3Homo sapiens, Mus musculus, Bos taurus
R168IEPFCSGVYAG2Arabidopsis thaliana, Oryza sativa subsp. japonica
R168ISALLRGIYGD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R168MSAMINGIYAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R97PAAQNRFLYVG3Homo sapiens, Mus musculus, Bos taurus
R97IADKKFLLDPS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R97P----RFVLWN1Arabidopsis thaliana
R97P----RFVLWE1Oryza sativa subsp. japonica
R97PSAKNRYIYYP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S13LGGGISGLAAS3Homo sapiens, Mus musculus, Bos taurus
S13VGGGVSGLCFT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S13VGGGISGLCIA1Arabidopsis thaliana
S13VGGGISGLCTA1Oryza sativa subsp. japonica
S13CGGGIAGLSTA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S35VVLVESSERLG1Homo sapiens
S35ITLFESQNRTG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S35LIVTEAKDRVG1Arabidopsis thaliana
S35VLVTEARARPG1Oryza sativa subsp. japonica
S35IDLYEKGPRLG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S35VILVEGSKRLG1Mus musculus
S35VVLVEGSERLG1Bos taurus
V170SLCRGVFAGNS3Homo sapiens, Mus musculus, Bos taurus
V170PFCSGVYAGDP2Arabidopsis thaliana, Oryza sativa subsp. japonica
V170ALLRGIYGDDV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V170AMINGIYAGDL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V257LRGQPVCGLSL1Homo sapiens
V257VTGNPVTQIMK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V257KLSWKLSGITK1Arabidopsis thaliana
V257KLSWKLTSITK1Oryza sativa subsp. japonica
V257HLNKPAKTLVP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V257LSGQPVCGLSL1Mus musculus
V257LQGQPVCGLSL1Bos taurus
V290AIPASVLSELL1Homo sapiens
V290TITPPKIAKLL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V290TVPSHVASGLL1Arabidopsis thaliana
V290TIPSYVASDIL1Oryza sativa subsp. japonica
V290ANSSRNLENLI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V290AIPASELSKLL1Mus musculus
V290AIPASVLSKLL1Bos taurus
V316AVSVAVVNLQY3Homo sapiens, Mus musculus, Bos taurus
V316SNTIILVNYYL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V316YPPVAAVSISY1Arabidopsis thaliana
V316YPPVAAVTVSY1Oryza sativa subsp. japonica
V316--SVYVVNVYY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V33PKVVLVESSER1Homo sapiens
V33VEITLFESQNR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V33PNLIVTEAKDR1Arabidopsis thaliana
V33GDVLVTEARAR1Oryza sativa subsp. japonica
V33CTIDLYEKGPR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V33PKVILVEGSKR1Mus musculus
V33PKVVLVEGSER1Bos taurus
V347-VLGIVYDSV-2Homo sapiens, Mus musculus
V347ETLGTIYSSS-2Arabidopsis thaliana, Oryza sativa subsp. japonica
V347KLLGVIFDSVI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V347HVLGIVFDS--1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V347-ILGIVYDSV-1Bos taurus
V454SYE-GVAVNDC3Homo sapiens, Mus musculus, Bos taurus
V454YVA-GVALGRC2Arabidopsis thaliana, Oryza sativa subsp. japonica
V454GFSRSPGVPDV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V454WYN-GVSIGDC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V456E-GVAVNDCIE3Homo sapiens, Mus musculus, Bos taurus
V456A-GVALGRCVE2Arabidopsis thaliana, Oryza sativa subsp. japonica
V456SRSPGVPDVIV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V456N-GVSIGDCIM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W42ERLGGWIRSV-2Homo sapiens, Bos taurus
W42NRTGGWIYSCN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W42DRVGGNIIT--1Arabidopsis thaliana
W42ARPGGNITTAE1Oryza sativa subsp. japonica
W42PRLGGWLQSV-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W42KRLGGWIRSI-1Mus musculus


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