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 SPOP
Gene summary
Basic gene Info.Gene symbolSPOP
Gene namespeckle-type POZ protein
SynonymsBTBD32|TEF2
CytomapUCSC genome browser: 17q21.33
Type of geneprotein-coding
RefGenesNM_001007226.1,
NM_001007227.1,NM_001007228.1,NM_001007229.1,NM_001007230.1,
NM_003563.3,
DescriptionHIB homolog 1roadkill homolog 1
Modification date20141207
dbXrefs MIM : 602650
HGNC : HGNC
Ensembl : ENSG00000121067
HPRD : 16004
Vega : OTTHUMG00000161496
ProteinUniProt: O43791
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SPOP
BioGPS: 8405
PathwayNCI Pathway Interaction Database: SPOP
KEGG: SPOP
REACTOME: SPOP
Pathway Commons: SPOP
ContextiHOP: SPOP
ligand binding site mutation search in PubMed: SPOP
UCL Cancer Institute: SPOP
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


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Ligand binding site mutations for SPOP
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
F133F133LPRAD3
W131W131GPRAD2
M117M117VUCEC2
Q120R121QUCEC2
Q120R121QLUAD1
Y87Y87SPRAD1
F133F133CPRAD1
W131W131RPRAD1
C44,E46R45WUCEC1
E47E47AUCEC1
W131W131CUCEC1
F102K103NUCEC1
E46E46KUCEC1
L76E78KUCEC1
F102F104IUCEC1
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.

Clinical information for SPOP from My Cancer Genome.
Speckle-type POZ protein (SPOP) is a gene that encodes a protein that regulates the transcriptional repression carried out by death-associated protein 6 (DAXX). Missense mutations, nonsense mutations, silent mutations, frameshift insertions, and in-frame deletions are observed in cancers such as endometrial cancer, meningeal cancer, and prostate cancer.Modified: July 1, 2015

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Protein structure related information for SPOP
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
E47E47A-1.8458553
W131W131G-1.2828969
F133F133C-1.1322051
Q120R121Q-1.1111006
F102K103N-1.0846326
Y87Y87S-0.95418402
W131W131C-0.90969165
W131W131R-0.81115498
M117M117V-0.80039432
L76E78K-0.69616396
F133F133L-0.69484784
E46E46K-0.41914817
F102F104I-0.35312231
E46R45W-0.34362631
C44R45W-0.34362631
(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 SPOP from PDB
PDB IDPDB titlePDB structure
2CR2Solution structure of N-terminal domain of speckle-type POZ protein

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Differential gene expression and gene-gene network for SPOP
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 SPOP and the right PPI network was created from samples without mutations in the LBS of SPOP. 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 SPOP
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0014170Endometrial Neoplasms1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
171600F133LUncertain significanceSomaticMedGen:C0376358
OMIM:176807
Orphanet:ORPHA1331
SNOMED CT:399068003

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Pharmacological information for SPOP
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.
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 SPOP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)3hqhAC44 E46 E47
ZNZINC(2+)3ivbAC44 E47
IIIPeptide ligand (CYS,ASP,GLU,VAL,THR,SER,THR,THR)3hqlAL76 Y87 F102 M117 W131 F133
IIIPeptide ligand (PRO,ASP,VAL,SER,SER,SER,THR)3hqmBL76 Y87 F102 M117 W131 F133
IIIPeptide ligand (PRO,ASP,VAL,SER,SER,SER,THR,HIS)3ivqAL76 Y87 F102 Q120 W131
IIIPeptide ligand (GLU,VAL,THR,SER,THR,THR)3hqiBL76 Y87 F102 W131 F133
IIIPeptide ligand (PRO,ASP,VAL,SER,SER,SER,THR)3hqmAL76 Y87 M117 W131 F133
IIIPeptide ligand (GLU,VAL,THR,SER,THR,THR)3hu6BL76 Y87 W131
IIIPeptide ligand (ASP,GLU,VAL,THR,SER,THR,THR)3hqlBL76 Y87 W131 F133
IIIPeptide ligand (ASP,GLU,VAL,THR,SER,THR,THR,SER,SER,SER)3ivvAL76 Y87 W131 F133
IIIPeptide ligand (PRO,GLU,ALA,SER,SER,SER,THR)4o1vAL76 Y87 W131 F133
IIIPeptide ligand (PRO,ASP,VAL,SER,SER,SER,THR)3ivqBM117 W131 F133
IIIPeptide ligand (ALA,SER,ALA,ASP,SER,THR,THR,GLU,GLY)3hqhAY87 F102 Q120 W131 F133
IIIPeptide ligand (ALA,SER,ALA,ASP,SER,THR,THR,GLU,GLY,THR,PRO)3ivbAY87 F102 Q120 W131 F133
IIIPeptide ligand (GLU,VAL,THR,SER,THR,THR)3hqiAY87 W131 F133
IIIPeptide ligand (GLU,VAL,THR,SER,THR,THR)3hu6AY87 W131 F133


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Conservation information for LBS of SPOP
Multiple alignments for O43791 in multiple species
LBSAA sequence# speciesSpecies
C44NNFSFCRE-EM7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
C44KGYSLAKGIGI1Arabidopsis thaliana
D130FVQGKDWGFKK7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
D130KYRGSMWGYKR1Arabidopsis thaliana
E113NAKGEET----5Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
E113NAKREET----2Caenorhabditis elegans, Drosophila melanogaster
E113DQSGKGKHKVH1Arabidopsis thaliana
E118--KAMESQRAY7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
E118FDRALESGPYT1Arabidopsis thaliana
E160LTLFCEVSVVQ5Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
E160LKINCTVGVVV1Arabidopsis thaliana
E160LSIFCEVSVVA1Caenorhabditis elegans
E160LTIFCEVSVVA1Drosophila melanogaster
E46FSFCRE-EMGE7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
E46YSLAKGIGIGK1Arabidopsis thaliana
E47FCRE-EMGEVI5Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
E47FCRE-EMGEVL2Caenorhabditis elegans, Drosophila melanogaster
E47LAKGIGIGKHI1Arabidopsis thaliana
F102EVRAKFKFSIL7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
F102DVRALFELSLL1Arabidopsis thaliana
F133GKDWGFKKFIR7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
F133GSMWGYKRFFR1Arabidopsis thaliana
G128YRFVQGKDWGF7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
G128TLKYRGSMWGY1Arabidopsis thaliana
G132QGKDWGFKKFI7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
G132RGSMWGYKRFF1Arabidopsis thaliana
K129RFVQGKDWGFK7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
K129LKYRGSMWGYK1Arabidopsis thaliana
K134KDWGFKKFIRR7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
K134SMWGYKRFFRR1Arabidopsis thaliana
K135DWGFKKFIRRD7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
K135MWGYKRFFRR-1Arabidopsis thaliana
L76VNPKGLD-EES6Homo sapiens, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
L76FYPDGKNPEDN1Arabidopsis thaliana
L76INPKGLD-EES1Caenorhabditis elegans
M117---KAMESQRA7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
M117HFDRALESGPY1Arabidopsis thaliana
Q120KAMESQRAYRF7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
Q120RALESGPYTLK1Arabidopsis thaliana
R124SQRAYRFVQGK7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
R124SGPYTLKYRGS1Arabidopsis thaliana
R70LKWCLRVNPKG6Homo sapiens, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
R70YQWAIYFYPDG1Arabidopsis thaliana
R70LKWCLRINPKG1Caenorhabditis elegans
S119-KAMESQRAYR7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
S119DRALESGPYTL1Arabidopsis thaliana
V126RAYRFVQGKDW7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
V126PYTLKYRGSMW1Arabidopsis thaliana
W131VQGKDWGFKKF7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
W131YRGSMWGYKRF1Arabidopsis thaliana
Y123ESQRAYRFVQG7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
Y123ESGPYTLKYRG1Arabidopsis thaliana
Y87DYLSLYLLLVS6Homo sapiens, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis
Y87AYVSVFIALAS1Arabidopsis thaliana
Y87DYLSLYLLLVQ1Caenorhabditis elegans


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