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 PNP
Gene summary
Basic gene Info.Gene symbolPNP
Gene namepurine nucleoside phosphorylase
SynonymsNP|PRO1837|PUNP
CytomapUCSC genome browser: 14q13.1
Type of geneprotein-coding
RefGenesNM_000270.3,
DescriptionHEL-S-156anepididymis secretory sperm binding protein Li 156aninosine phosphorylaseinosine-guanosine phosphorylasepurine-nucleoside:orthophosphate ribosyltransferase
Modification date20141221
dbXrefs MIM : 164050
HGNC : HGNC
HPRD : 01247
ProteinUniProt: P00491
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PNP
BioGPS: 4860
PathwayNCI Pathway Interaction Database: PNP
KEGG: PNP
REACTOME: PNP
Pathway Commons: PNP
ContextiHOP: PNP
ligand binding site mutation search in PubMed: PNP
UCL Cancer Institute: PNP
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006139nucleobase-containing compound metabolic process3029074
GO:0006148inosine catabolic process16964310
GO:0006738nicotinamide riboside catabolic process19001417
GO:0034418urate biosynthetic process16964310
GO:0042102positive regulation of T cell proliferation16964310
GO:0042493response to drug18938130
GO:0046638positive regulation of alpha-beta T cell differentiation16964310


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Ligand binding site mutations for PNP

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R158R158HCOAD1
E201E201KCOAD1
E201E201VOV1
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 PNP
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
E201E201K-1.0646797
E201E201V-0.75457883
R158R158H-0.6844422
(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 PNP from PDB

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Differential gene expression and gene-gene network for PNP
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 PNP and the right PPI network was created from samples without mutations in the LBS of PNP. 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 PNP
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268125Purine Nucleoside Phosphorylase Deficiency7Biomarker, GeneticVariation
umls:C0311375Arsenic Poisoning1Biomarker
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C0029456Osteoporosis1Biomarker

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

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Pharmacological information for PNP
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|investigationalDB00242CladribineSmall molecule
ApprovedDB00900DidanosineSmall molecule
ExperimentalDB016678-azaguanineSmall molecule
ExperimentalDB022222,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]PurineSmall molecule
ExperimentalDB02230Immucillin-GSmall molecule
ExperimentalDB02377GuanineSmall molecule
ExperimentalDB023912-Amino-7-[2-(2-Hydroxy-1-Hydroxymethyl-Ethylamino)-Ethyl]-1,7-Dihydro-Purin-6-OneSmall molecule
ExperimentalDB02568PeldesineSmall molecule
ExperimentalDB027969-DeazainosineSmall molecule
ExperimentalDB02857GuanosineSmall molecule
ExperimentalDB03101Ribose-1-PhosphateSmall molecule
ExperimentalDB035514'-Deaza-1'-Aza-2'-Deoxy-1'-(9-Methylene)-Immucillin-H, (3r,4r)-N-[9-Deazahypoxanthin-9-Yl)Methyl]-4-Hydroxymethyl-Pyrrolidin-3-OlSmall molecule
ExperimentalDB036093-DeoxyguanosineSmall molecule
ExperimentalDB03881MT-Immucillin-HSmall molecule
ExperimentalDB04076HypoxanthineSmall molecule
ExperimentalDB042609-(5,5-Difluoro-5-Phosphonopentyl)GuanineSmall molecule
InvestigationalDB04335InosineSmall molecule
ExperimentalDB047539-DEAZAINOSINE-2',3'-O-ETHYLIDENEPHOSPHONATESmall molecule
ExperimentalDB04754GUANOSINE-2',3'-O-ETHYLIDENEPHOSPHONATESmall molecule
ExperimentalDB04757GUANOSINE-2',3'-O-METHYLIDENEPHOSPHONATESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PNP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IMHIMMUCILLIN H1pf7EE201
AC29-HYROXYETHOXYMETHYLGUANINE1pwyEE201
NOSINOSINE1rctEE201
GMPGUANOSINE1rfgEE201
IMHIMMUCILLIN H1rr6AE201
DIH4'-DEAZA-1'-AZA-2'-DEOXY-1'-(9-METHYLENE)-IMMUCILLIN-H1rszAE201
IMHIMMUCILLIN H1rt9AE201
GUNGUANINE1ulbAE201
GUNGUANINE1v2hEE201
2DI2'3'-DIDEOXYINOSINE1v3qEE201
AZG8-AZAGUANINE1v41EE201
3DG3-DEOXYGUANOSINE1v45EE201
MSG7-METHYL-6-THIO-GUANOSINE1yryEE201
DIH4'-DEAZA-1'-AZA-2'-DEOXY-1'-(9-METHYLENE)-IMMUCILLIN-H2a0wAE201
DIH4'-DEAZA-1'-AZA-2'-DEOXY-1'-(9-METHYLENE)-IMMUCILLIN-H2a0xAE201
DIH4'-DEAZA-1'-AZA-2'-DEOXY-1'-(9-METHYLENE)-IMMUCILLIN-H2a0yAE201
IMHIMMUCILLIN H2oc4AE201
IMHIMMUCILLIN H2oc9AE201
IMHIMMUCILLIN H2on6AE201
IMHIMMUCILLIN H2q7oEE201
DIH4'-DEAZA-1'-AZA-2'-DEOXY-1'-(9-METHYLENE)-IMMUCILLIN-H3bgsAE201
D1V2-MERCAPTO(3H)QUINAZOLINONE3d1vAE201
7DG7-DEAZAGUANINE3inyAE201
2297-({[(1R,2S)-2,3-DIHYDROXY-1-(HYDROXYMETHYL)PROPYL]AMINO}METHYL)-3,5-DIHYDRO-4H-PYRROLO[3,2-D]PYRIMIDIN-4-ONE3k8oEE201
2297-({[(1R,2S)-2,3-DIHYDROXY-1-(HYDROXYMETHYL)PROPYL]AMINO}METHYL)-3,5-DIHYDRO-4H-PYRROLO[3,2-D]PYRIMIDIN-4-ONE3k8oQE201
2297-({[(1R,2S)-2,3-DIHYDROXY-1-(HYDROXYMETHYL)PROPYL]AMINO}METHYL)-3,5-DIHYDRO-4H-PYRROLO[3,2-D]PYRIMIDIN-4-ONE3k8oSE201
2297-({[(1R,2S)-2,3-DIHYDROXY-1-(HYDROXYMETHYL)PROPYL]AMINO}METHYL)-3,5-DIHYDRO-4H-PYRROLO[3,2-D]PYRIMIDIN-4-ONE3k8oTE201
2297-({[(1R,2S)-2,3-DIHYDROXY-1-(HYDROXYMETHYL)PROPYL]AMINO}METHYL)-3,5-DIHYDRO-4H-PYRROLO[3,2-D]PYRIMIDIN-4-ONE3k8oUE201
2297-({[(1R,2S)-2,3-DIHYDROXY-1-(HYDROXYMETHYL)PROPYL]AMINO}METHYL)-3,5-DIHYDRO-4H-PYRROLO[3,2-D]PYRIMIDIN-4-ONE3k8oYE201
22A7-({[2-HYDROXY-1-(HYDROXYMETHYL)ETHYL]AMINO}METHYL)-3,5-DIHYDRO-4H-PYRROLO[3,2-D]PYRIMIDIN-4-ONE3k8qAE201
IM5DADME-IMMUCILLIN-H3phbEE201
IM5DADME-IMMUCILLIN-H3phbQE201
IM5DADME-IMMUCILLIN-H3phbSE201
IM5DADME-IMMUCILLIN-H3phbTE201
IM5DADME-IMMUCILLIN-H3phbUE201
IM5DADME-IMMUCILLIN-H3phbYE201
IM5DADME-IMMUCILLIN-H4earAE201
IM5DADME-IMMUCILLIN-H4earBE201
IM5DADME-IMMUCILLIN-H4earCE201
IM5DADME-IMMUCILLIN-H4eb8AE201
IM5DADME-IMMUCILLIN-H4eb8BE201
IM5DADME-IMMUCILLIN-H4eb8CE201
GUNGUANINE4eceAE201
GUNGUANINE4eceBE201
GUNGUANINE4eceCE201
GUNGUANINE4eceDE201
GUNGUANINE4eceEE201
GUNGUANINE4eceFE201
PO4PHOSPHATE ION3bgsAR158


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Conservation information for LBS of PNP
Multiple alignments for P00491 in multiple species
LBSAA sequence# speciesSpecies
A116LVVTNAAGGLN2Homo sapiens, Mus musculus
A116MVVTNAAGGLN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A116LIVTNAAGGIN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A117VVTNAAGGLNP2Homo sapiens, Mus musculus
A117VVTNAAGGLNQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A117IVTNAAGGINA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D157DERFGDRFPAM1Homo sapiens
D157AHEFGVRFPPL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D157LDEDGPRFLAL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D157DERFGVRFPAM1Mus musculus
E153RGPNDERFGDR1Homo sapiens
E153RGPNAHEFGVR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E153RGPNLDEDGPR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E153RGPNDERFGVR1Mus musculus
E201AGPSFETVAEC1Homo sapiens
E201SGPCFETRAES1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E201SGPTFETRAES1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E201AGPNFETVAES1Mus musculus
F200VAGPSFETVAE1Homo sapiens
F200VSGPCFETRAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F200VSGPTFETRAE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F200LAGPNFETVAE1Mus musculus
F72RLVFGFLNGR-1Homo sapiens
F72KLYFAFLGEKR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F72TLMFGSMNGS-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F72RLVFGLLNGR-1Mus musculus
G118VTNAAGGLNPK1Homo sapiens
G118VTNAAGGLNQG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G118VTNAAGGINAK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G118VTNAAGGLNPN1Mus musculus
G149QNPLRGPNDER2Homo sapiens, Mus musculus
G149MNPLRGPNAHE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G149QHPLRGPNLDE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G218GADAVGMSTVP2Homo sapiens, Mus musculus
G218GADCVGMSTVP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G218GGDAVGMSTVP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G32VAIICGSGLGG1Homo sapiens
G32VAIICGSGLGT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G32TLIICGSGLGG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G32VAVICGSGLGG1Mus musculus
G75FGFLNGR--AC1Homo sapiens
G75FAFLGEKRVPT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G75FGSMNGS--PV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G75FGLLNGR--CC1Mus musculus
H257K--ANHEEVLA1Homo sapiens
H257KGAANHLEVLE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H257KGKATHAEVLE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H257K--ANHMEVLD1Mus musculus
H64STVPGHAGRLV1Homo sapiens
H64SHVPGHASKLY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H64STVPGHSGTLM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H64STVQGHAGRLV1Mus musculus
H86MQGRFHMYEGY2Homo sapiens, Mus musculus
H86LAGRYHSYEGY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H86MNGRLHGYEGN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K244SLITNKVIMDY1Homo sapiens
K244SLVTNNVVVEE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K244SLITNTCVVDS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K244SLITNKVVMDY1Mus musculus
M219ADAVGMSTVPE2Homo sapiens, Mus musculus
M219ADCVGMSTVPE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M219GDAVGMSTVPE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N115TLVVTNAAGGL2Homo sapiens, Mus musculus
N115VMVVTNAAGGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N115NLIVTNAAGGI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N243FSLITNKVIMD1Homo sapiens
N243ISLVTNNVVVE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N243LSLITNTCVVD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N243FSLITNKVVMD1Mus musculus
N3---MENGYTYE1Homo sapiens
N3HQAKQQPHHTE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N3SQQREAITKAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N3---MENEFTYE1Mus musculus
R148GQNPLRGPNDE2Homo sapiens, Mus musculus
R148GMNPLRGPNAH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R148GQHPLRGPNLD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R158ERFGDRFPAMS1Homo sapiens
R158HEFGVRFPPLS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R158DEDGPRFLALS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R158ERFGVRFPAMS1Mus musculus
R84VMMQGRFHMYE2Homo sapiens, Mus musculus
R84MILAGRYHSYE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R84VLMNGRLHGYE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S220DAVGMSTVPEV3Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Mus musculus
S220DCVGMSTVPEV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S33AIICGSGLGGL1Homo sapiens
S33AIICGSGLGTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S33LIICGSGLGGI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S33AVICGSGLGGL1Mus musculus
T242GFSLITNKVIM1Homo sapiens
T242AISLVTNNVVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T242ALSLITNTCVV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T242GFSLITNKVVM1Mus musculus
V195GTYVMVAGPSF1Homo sapiens
V195GCYAFVSGPCF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V195GTYTFVSGPTF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V195GTYVMLAGPNF1Mus musculus
V217LGADAVGMSTV2Homo sapiens, Mus musculus
V217MGADCVGMSTV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V217LGGDAVGMSTV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V245LITNKVIMDYE1Homo sapiens
V245LVTNNVVVEES1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V245LITNTCVVDSP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V245LITNKVVMDYE1Mus musculus
V260ANHEEVLAAGK1Homo sapiens
V260ANHLEVLEVGI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V260ATHAEVLENGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V260ANHMEVLDAGK1Mus musculus
Y88GRFHMYEGYPL1Homo sapiens
Y88GRYHSYEGYPI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y88GRLHGYEGNTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y88GRFHMYEGYSL1Mus musculus


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