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 DNPEP
Gene summary
Basic gene Info.Gene symbolDNPEP
Gene nameaspartyl aminopeptidase
SynonymsASPEP|DAP
CytomapUCSC genome browser: 2q35
Type of geneprotein-coding
RefGenesNM_012100.2,
Description-
Modification date20141207
dbXrefs MIM : 611367
HGNC : HGNC
Ensembl : ENSG00000123992
HPRD : 09924
Vega : OTTHUMG00000058919
ProteinUniProt: Q9ULA0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DNPEP
BioGPS: 23549
PathwayNCI Pathway Interaction Database: DNPEP
KEGG: DNPEP
REACTOME: DNPEP
Pathway Commons: DNPEP
ContextiHOP: DNPEP
ligand binding site mutation search in PubMed: DNPEP
UCL Cancer Institute: DNPEP
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


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Ligand binding site mutations for DNPEP
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
Y381V382MCOAD1
T415V417FKIRC1
T415M416IKIRC1
E302V302LLUAD1
Y381K379RSTAD1
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 DNPEP
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 DNPEP from PDB

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

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

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Pharmacological information for DNPEP
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
NutraceuticalDB00142L-Glutamic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of DNPEP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4dyoAE302
SD4L-ASPARAGINE4dyoAE302 Y381 T415


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Conservation information for LBS of DNPEP
Multiple alignments for Q9ULA0 in multiple species
LBSAA sequence# speciesSpecies
D264FAPRLDNLHSC3Homo sapiens, Mus musculus, Bos taurus
D264FSGRLDNLTSC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D264FSPRLDNLGMT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D264SGARLDNQVGT1Caenorhabditis elegans
D346FMISADMAHAV2Homo sapiens, Mus musculus
D346FFLSSDVAHAV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D346FLVSADMAHAM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D346MLISADQAHAT1Caenorhabditis elegans
D346YMISADMAHAV1Bos taurus
E301TLYDNEEVGSE2Homo sapiens, Mus musculus
E301ACFDHEEIGSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E301PSFDHEEIGSV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E301ACFDNEEVGSD1Caenorhabditis elegans
E301ALYDNEEVGSE1Bos taurus
E302LYDNEEVGSES3Homo sapiens, Mus musculus, Bos taurus
E302CFDHEEIGSSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E302SFDHEEIGSVS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E302CFDNEEVGSDS1Caenorhabditis elegans
G414NDSPCGSTIGP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G414NDSPCGTTIGP2Mus musculus, Bos taurus
G414NDTPCGTTIGP1Homo sapiens
G414NDSPCGSTVGP1Caenorhabditis elegans
H349SADMAHAVHPN3Homo sapiens, Mus musculus, Bos taurus
H349SSDVAHAVHPN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H349SADMAHAMHPN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H349SADQAHATHPN1Caenorhabditis elegans
H440PQLAMHSIRET2Mus musculus, Bos taurus
H440PQLAMHSIREM1Homo sapiens
H440PVLSMHSIRET1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H440PMLSMHSCREM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H440PQLAMHSIREF1Caenorhabditis elegans
H94SLIGAHTDSPC3Homo sapiens, Mus musculus, Bos taurus
H94AITGAHTDSPA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H94SIIATHTDSPT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H94SIVVGHTDSPC1Caenorhabditis elegans
K374KGPVIKVNSKQ3Homo sapiens, Mus musculus, Bos taurus
K374GGPVIKINANQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K374KGTVIKVNANQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K374GGVVVKVNVNQ1Caenorhabditis elegans
M347MISADMAHAVH3Homo sapiens, Mus musculus, Bos taurus
M347FLSSDVAHAVH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M347LVSADMAHAMH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M347LISADQAHATH1Caenorhabditis elegans
M439SPQLAMHSIRE3Homo sapiens, Mus musculus, Bos taurus
M439NPVLSMHSIRE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M439NPMLSMHSCRE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M439CPQLAMHSIRE1Caenorhabditis elegans
T415DSPCGTTIGPI2Mus musculus, Bos taurus
T415DTPCGTTIGPI1Homo sapiens
T415DSPCGSTIGPI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T415DSPCGSTIGPK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T415DSPCGSTVGPI1Caenorhabditis elegans
Y381NSKQRYASNAV3Homo sapiens, Mus musculus, Bos taurus
Y381NANQRYMTNSP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y381NANQRYTTNSA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y381NVNQRYATTST1Caenorhabditis elegans


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