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mutLBSgeneDB |
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| Gene summary for SPR |
 Gene summary |
| Basic gene Info. | Gene symbol | SPR |
| Gene name | sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) | |
| Synonyms | SDR38C1 | |
| Cytomap | UCSC genome browser: 2p14-p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003124.4, | |
| Description | sepiapterin reductaseshort chain dehydrogenase/reductase family 38C, member 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 182125 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000116096 | ||
| HPRD : 01632 | ||
| Vega : OTTHUMG00000129777 | ||
| Protein | UniProt: P35270 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SPR | |
| BioGPS: 6697 | ||
| Pathway | NCI Pathway Interaction Database: SPR | |
| KEGG: SPR | ||
| REACTOME: SPR | ||
| Pathway Commons: SPR | ||
| Context | iHOP: SPR | |
| ligand binding site mutation search in PubMed: SPR | ||
| UCL Cancer Institute: SPR | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006809 | nitric oxide biosynthetic process | 15197144 |
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| Ligand binding site mutations for SPR |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D257 | H255N | LUSC | 1 | G102 | G102A | STAD | 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. |
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| 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 |
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| 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 | G102 | G102A | -0.7717056 | D257 | H255N | -0.49634089 |
| (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 |
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| 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) |
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| Phenotype information for SPR |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268468 | Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | 3 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02637 | Oxaloacetate Ion | Small molecule |  |
| Experimental | DB03461 | 2'-Monophosphoadenosine 5'-Diphosphoribose | Small molecule |  |
| Experimental | DB03886 | Biopterin | Small molecule |  |
| Experimental | DB04275 | N-Acetyl Serotonin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SPR go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of SPR |
| Multiple alignments for P35270 in multiple species |
| LBS | AA sequence | # species | Species | A101 | LLINNAGTLGD | 2 | Rattus norvegicus, Bos taurus | A101 | LLINNAGSLGD | 1 | Homo sapiens | A101 | LIINNAGSIGD | 1 | Xenopus tropicalis | A197 | RVLNYAPGPLD | 2 | Homo sapiens, Xenopus tropicalis | A197 | RVLSYAPGPLD | 1 | Rattus norvegicus | A197 | RVLSYGPGPLD | 1 | Bos taurus | A209 | DMQQLARETSV | 2 | Homo sapiens, Bos taurus | A209 | DMHVVARTQTA | 1 | Xenopus tropicalis | A209 | NMQQLARETSM | 1 | Rattus norvegicus | A41 | VLVLSARNDEA | 2 | Homo sapiens, Bos taurus | A41 | TLLLVSRTEEA | 1 | Xenopus tropicalis | A41 | VLLLSARSDSM | 1 | Rattus norvegicus | A68 | VVRVPADLGAE | 1 | Homo sapiens | A68 | VRWEAADLGTS | 1 | Xenopus tropicalis | A68 | VVLAAADLGTE | 1 | Rattus norvegicus | A68 | IVRVPADLGAE | 1 | Bos taurus | C159 | NISSLCALQPF | 2 | Homo sapiens, Rattus norvegicus | C159 | NVSSLAALQPF | 1 | Xenopus tropicalis | C159 | NISSICALQPF | 1 | Bos taurus | D217 | TSVDPDMRKGL | 1 | Homo sapiens | D217 | QTADPELRRFL | 1 | Xenopus tropicalis | D217 | TSMDPELRSRL | 1 | Rattus norvegicus | D217 | TSVDPDLRKSL | 1 | Bos taurus | D257 | SGAHVDFYDK | 1 | Homo sapiens | D257 | SGDHIDFFD- | 1 | Xenopus tropicalis | D257 | SGAHVDFYDI | 1 | Rattus norvegicus | D257 | SGAHIDFYDE | 1 | Bos taurus | D69 | VRVPADLGAEA | 1 | Homo sapiens | D69 | RWEAADLGTSE | 1 | Xenopus tropicalis | D69 | VLAAADLGTES | 1 | Rattus norvegicus | D69 | VRVPADLGAET | 1 | Bos taurus | F164 | CALQPFKGWGL | 2 | Rattus norvegicus, Bos taurus | F164 | CALQPFKGWAL | 1 | Homo sapiens | F164 | AALQPFKSWAL | 1 | Xenopus tropicalis | F19 | GASRGFGRTLA | 3 | Homo sapiens, Xenopus tropicalis, Bos taurus | F19 | GASRGFGRALA | 1 | Rattus norvegicus | G102 | LINNAGTLGDV | 2 | Rattus norvegicus, Bos taurus | G102 | LINNAGSLGDV | 1 | Homo sapiens | G102 | IINNAGSIGDV | 1 | Xenopus tropicalis | G14 | LCVLTGASRGF | 2 | Xenopus tropicalis, Bos taurus | G14 | VCLLTGASRGF | 1 | Homo sapiens | G14 | VCVLTGASRGF | 1 | Rattus norvegicus | G18 | TGASRGFGRTL | 3 | Homo sapiens, Xenopus tropicalis, Bos taurus | G18 | TGASRGFGRAL | 1 | Rattus norvegicus | G199 | LNYAPGPLDTD | 2 | Homo sapiens, Xenopus tropicalis | G199 | LSYAPGPLDTN | 1 | Rattus norvegicus | G199 | LSYGPGPLDTD | 1 | Bos taurus | G221 | PDMRKGLQELK | 1 | Homo sapiens | G221 | PELRRFLMDRK | 1 | Xenopus tropicalis | G221 | PELRSRLQKLN | 1 | Rattus norvegicus | G221 | PDLRKSLQELK | 1 | Bos taurus | I155 | RTVVNISSLCA | 1 | Homo sapiens | I155 | RVVVNVSSLAA | 1 | Xenopus tropicalis | I155 | KTVVNISSLCA | 1 | Rattus norvegicus | I155 | RTVVNISSICA | 1 | Bos taurus | K174 | LYCAGKAARDM | 2 | Homo sapiens, Rattus norvegicus | K174 | LYCSGKAARDM | 1 | Xenopus tropicalis | K174 | LYCAGKAARNM | 1 | Bos taurus | L104 | NNAGTLGDVSK | 2 | Rattus norvegicus, Bos taurus | L104 | NNAGSLGDVSK | 1 | Homo sapiens | L104 | NNAGSIGDVSK | 1 | Xenopus tropicalis | L126 | NNYWALNLTSM | 2 | Homo sapiens, Rattus norvegicus | L126 | TDYMMFNVSSP | 1 | Xenopus tropicalis | L126 | NNYWTLNLTST | 1 | Bos taurus | L158 | VNISSLCALQP | 2 | Homo sapiens, Rattus norvegicus | L158 | VNVSSLAALQP | 1 | Xenopus tropicalis | L158 | VNISSICALQP | 1 | Bos taurus | L201 | YAPGPLDTDMQ | 1 | Homo sapiens | L201 | YAPGPLDTDMH | 1 | Xenopus tropicalis | L201 | YAPGPLDTNMQ | 1 | Rattus norvegicus | L201 | YGPGPLDTDMQ | 1 | Bos taurus | L222 | DMRKGLQELKA | 1 | Homo sapiens | L222 | ELRRFLMDRKE | 1 | Xenopus tropicalis | L222 | ELRSRLQKLNS | 1 | Rattus norvegicus | L222 | DLRKSLQELKR | 1 | Bos taurus | L70 | RVPADLGAEAG | 1 | Homo sapiens | L70 | WEAADLGTSEG | 1 | Xenopus tropicalis | L70 | LAAADLGTESG | 1 | Rattus norvegicus | L70 | RVPADLGAETG | 1 | Bos taurus | M205 | PLDTDMQQLAR | 2 | Homo sapiens, Bos taurus | M205 | PLDTDMHVVAR | 1 | Xenopus tropicalis | M205 | PLDTNMQQLAR | 1 | Rattus norvegicus | M218 | SVDPDMRKGLQ | 1 | Homo sapiens | M218 | TADPELRRFLM | 1 | Xenopus tropicalis | M218 | SMDPELRSRLQ | 1 | Rattus norvegicus | M218 | SVDPDLRKSLQ | 1 | Bos taurus | N100 | LLLINNAGSLG | 1 | Homo sapiens | N100 | LLIINNAGSIG | 1 | Xenopus tropicalis | N100 | LLLINNAGTLG | 1 | Rattus norvegicus | N100 | VLLINNAGTLG | 1 | Bos taurus | N43 | VLSARNDEALR | 2 | Homo sapiens, Bos taurus | N43 | LLVSRTEEALK | 1 | Xenopus tropicalis | N43 | LLSARSDSMLR | 1 | Rattus norvegicus | P198 | VLNYAPGPLDT | 2 | Homo sapiens, Xenopus tropicalis | P198 | VLSYAPGPLDT | 1 | Rattus norvegicus | P198 | VLSYGPGPLDT | 1 | Bos taurus | P200 | NYAPGPLDTDM | 2 | Homo sapiens, Xenopus tropicalis | P200 | SYAPGPLDTNM | 1 | Rattus norvegicus | P200 | SYGPGPLDTDM | 1 | Bos taurus | Q206 | LDTDMQQLARE | 2 | Homo sapiens, Bos taurus | Q206 | LDTDMHVVART | 1 | Xenopus tropicalis | Q206 | LDTNMQQLARE | 1 | Rattus norvegicus | R17 | LTGASRGFGRT | 3 | Homo sapiens, Xenopus tropicalis, Bos taurus | R17 | LTGASRGFGRA | 1 | Rattus norvegicus | R42 | LVLSARNDEAL | 2 | Homo sapiens, Bos taurus | R42 | LLLVSRTEEAL | 1 | Xenopus tropicalis | R42 | LLLSARSDSML | 1 | Rattus norvegicus | S156 | TVVNISSLCAL | 2 | Homo sapiens, Rattus norvegicus | S156 | VVVNVSSLAAL | 1 | Xenopus tropicalis | S156 | TVVNISSICAL | 1 | Bos taurus | S157 | VVNISSLCALQ | 2 | Homo sapiens, Rattus norvegicus | S157 | VVNVSSLAALQ | 1 | Xenopus tropicalis | S157 | VVNISSICALQ | 1 | Bos taurus | S16 | VLTGASRGFGR | 3 | Xenopus tropicalis, Rattus norvegicus, Bos taurus | S16 | LLTGASRGFGR | 1 | Homo sapiens | T203 | PGPLDTDMQQL | 2 | Homo sapiens, Bos taurus | T203 | PGPLDTDMHVV | 1 | Xenopus tropicalis | T203 | PGPLDTNMQQL | 1 | Rattus norvegicus | W167 | QPFKGWGLYCA | 2 | Rattus norvegicus, Bos taurus | W167 | QPFKGWALYCA | 1 | Homo sapiens | W167 | QPFKSWALYCS | 1 | Xenopus tropicalis | Y170 | KGWGLYCAGKA | 2 | Rattus norvegicus, Bos taurus | Y170 | KGWALYCAGKA | 1 | Homo sapiens | Y170 | KSWALYCSGKA | 1 | Xenopus tropicalis |
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