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 SPR
Gene summary
Basic gene Info.Gene symbolSPR
Gene namesepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
CytomapUCSC genome browser: 2p14-p12
Type of geneprotein-coding
Descriptionsepiapterin reductaseshort chain dehydrogenase/reductase family 38C, member 1
Modification date20141222
dbXrefs MIM : 182125
Ensembl : ENSG00000116096
HPRD : 01632
Vega : OTTHUMG00000129777
ProteinUniProt: P35270
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SPR
BioGPS: 6697
PathwayNCI Pathway Interaction Database: SPR
Pathway Commons: SPR
ContextiHOP: SPR
ligand binding site mutation search in PubMed: SPR
UCL Cancer Institute: SPR
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006809nitric oxide biosynthetic process15197144

Ligand binding site mutations for SPR

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 SPR
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 SPR from PDB

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


Phenotype information for SPR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268468Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency3Biomarker, GeneticVariation

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

Pharmacological information for SPR
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
ExperimentalDB02637Oxaloacetate IonSmall molecule
ExperimentalDB034612'-Monophosphoadenosine 5'-DiphosphoriboseSmall molecule
ExperimentalDB03886BiopterinSmall molecule
ExperimentalDB04275N-Acetyl SerotoninSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SPR go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of SPR
Multiple alignments for P35270 in multiple species
LBSAA sequence# speciesSpecies
A101LLINNAGTLGD2Rattus norvegicus, Bos taurus
A101LLINNAGSLGD1Homo sapiens
A101LIINNAGSIGD1Xenopus tropicalis
A197RVLNYAPGPLD2Homo sapiens, Xenopus tropicalis
A197RVLSYAPGPLD1Rattus norvegicus
A197RVLSYGPGPLD1Bos taurus
A209DMQQLARETSV2Homo sapiens, Bos taurus
A209DMHVVARTQTA1Xenopus tropicalis
A209NMQQLARETSM1Rattus norvegicus
A41VLVLSARNDEA2Homo sapiens, Bos taurus
A41TLLLVSRTEEA1Xenopus tropicalis
A41VLLLSARSDSM1Rattus norvegicus
A68VVRVPADLGAE1Homo sapiens
A68VRWEAADLGTS1Xenopus tropicalis
A68VVLAAADLGTE1Rattus norvegicus
C159NISSLCALQPF2Homo sapiens, Rattus norvegicus
C159NVSSLAALQPF1Xenopus tropicalis
C159NISSICALQPF1Bos taurus
D217TSVDPDMRKGL1Homo sapiens
D217QTADPELRRFL1Xenopus tropicalis
D217TSMDPELRSRL1Rattus norvegicus
D217TSVDPDLRKSL1Bos taurus
D257SGAHVDFYDK1Homo sapiens
D257SGDHIDFFD-1Xenopus tropicalis
D257SGAHVDFYDI1Rattus norvegicus
D257SGAHIDFYDE1Bos taurus
D69VRVPADLGAEA1Homo sapiens
D69RWEAADLGTSE1Xenopus tropicalis
D69VLAAADLGTES1Rattus norvegicus
F164CALQPFKGWGL2Rattus norvegicus, Bos taurus
F164CALQPFKGWAL1Homo sapiens
F164AALQPFKSWAL1Xenopus tropicalis
F19GASRGFGRTLA3Homo sapiens, Xenopus tropicalis, Bos taurus
F19GASRGFGRALA1Rattus norvegicus
G102LINNAGTLGDV2Rattus norvegicus, Bos taurus
G102LINNAGSLGDV1Homo sapiens
G102IINNAGSIGDV1Xenopus tropicalis
G14LCVLTGASRGF2Xenopus tropicalis, Bos taurus
G14VCLLTGASRGF1Homo sapiens
G14VCVLTGASRGF1Rattus norvegicus
G18TGASRGFGRTL3Homo sapiens, Xenopus tropicalis, Bos taurus
G18TGASRGFGRAL1Rattus norvegicus
G199LNYAPGPLDTD2Homo sapiens, Xenopus tropicalis
G199LSYAPGPLDTN1Rattus norvegicus
G199LSYGPGPLDTD1Bos taurus
G221PDMRKGLQELK1Homo sapiens
G221PELRRFLMDRK1Xenopus tropicalis
G221PELRSRLQKLN1Rattus norvegicus
G221PDLRKSLQELK1Bos taurus
I155RTVVNISSLCA1Homo sapiens
I155RVVVNVSSLAA1Xenopus tropicalis
I155KTVVNISSLCA1Rattus norvegicus
I155RTVVNISSICA1Bos taurus
K174LYCAGKAARDM2Homo sapiens, Rattus norvegicus
K174LYCSGKAARDM1Xenopus tropicalis
K174LYCAGKAARNM1Bos taurus
L104NNAGTLGDVSK2Rattus norvegicus, Bos taurus
L104NNAGSLGDVSK1Homo sapiens
L104NNAGSIGDVSK1Xenopus tropicalis
L126NNYWALNLTSM2Homo sapiens, Rattus norvegicus
L126TDYMMFNVSSP1Xenopus tropicalis
L126NNYWTLNLTST1Bos taurus
L158VNISSLCALQP2Homo sapiens, Rattus norvegicus
L158VNVSSLAALQP1Xenopus tropicalis
L158VNISSICALQP1Bos taurus
L201YAPGPLDTDMQ1Homo sapiens
L201YAPGPLDTDMH1Xenopus tropicalis
L201YAPGPLDTNMQ1Rattus norvegicus
L201YGPGPLDTDMQ1Bos taurus
L222DMRKGLQELKA1Homo sapiens
L222ELRRFLMDRKE1Xenopus tropicalis
L222ELRSRLQKLNS1Rattus norvegicus
L222DLRKSLQELKR1Bos taurus
L70RVPADLGAEAG1Homo sapiens
L70WEAADLGTSEG1Xenopus tropicalis
L70LAAADLGTESG1Rattus norvegicus
M205PLDTDMQQLAR2Homo sapiens, Bos taurus
M205PLDTDMHVVAR1Xenopus tropicalis
M205PLDTNMQQLAR1Rattus norvegicus
M218SVDPDMRKGLQ1Homo sapiens
M218TADPELRRFLM1Xenopus tropicalis
M218SMDPELRSRLQ1Rattus norvegicus
M218SVDPDLRKSLQ1Bos taurus
N100LLLINNAGSLG1Homo sapiens
N100LLIINNAGSIG1Xenopus tropicalis
N100LLLINNAGTLG1Rattus norvegicus
N100VLLINNAGTLG1Bos taurus
N43VLSARNDEALR2Homo sapiens, Bos taurus
N43LLVSRTEEALK1Xenopus tropicalis
N43LLSARSDSMLR1Rattus norvegicus
P198VLNYAPGPLDT2Homo sapiens, Xenopus tropicalis
P198VLSYAPGPLDT1Rattus norvegicus
P198VLSYGPGPLDT1Bos taurus
P200NYAPGPLDTDM2Homo sapiens, Xenopus tropicalis
P200SYAPGPLDTNM1Rattus norvegicus
P200SYGPGPLDTDM1Bos taurus
Q206LDTDMQQLARE2Homo sapiens, Bos taurus
Q206LDTDMHVVART1Xenopus tropicalis
Q206LDTNMQQLARE1Rattus norvegicus
R17LTGASRGFGRT3Homo sapiens, Xenopus tropicalis, Bos taurus
R17LTGASRGFGRA1Rattus norvegicus
R42LVLSARNDEAL2Homo sapiens, Bos taurus
R42LLLVSRTEEAL1Xenopus tropicalis
R42LLLSARSDSML1Rattus norvegicus
S156TVVNISSLCAL2Homo sapiens, Rattus norvegicus
S156VVVNVSSLAAL1Xenopus tropicalis
S156TVVNISSICAL1Bos taurus
S157VVNISSLCALQ2Homo sapiens, Rattus norvegicus
S157VVNVSSLAALQ1Xenopus tropicalis
S157VVNISSICALQ1Bos taurus
S16VLTGASRGFGR3Xenopus tropicalis, Rattus norvegicus, Bos taurus
S16LLTGASRGFGR1Homo sapiens
T203PGPLDTDMQQL2Homo sapiens, Bos taurus
T203PGPLDTDMHVV1Xenopus tropicalis
T203PGPLDTNMQQL1Rattus norvegicus
W167QPFKGWGLYCA2Rattus norvegicus, Bos taurus
W167QPFKGWALYCA1Homo sapiens
W167QPFKSWALYCS1Xenopus tropicalis
Y170KGWGLYCAGKA2Rattus norvegicus, Bos taurus
Y170KGWALYCAGKA1Homo sapiens
Y170KSWALYCSGKA1Xenopus tropicalis

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