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 SPIN1
Gene summary
Basic gene Info.Gene symbolSPIN1
Gene namespindlin 1
SynonymsSPIN
CytomapUCSC genome browser: 9q22.1
Type of geneprotein-coding
RefGenesNM_006717.2,
Descriptionovarian cancer-related proteinspindlin-1spindlin1
Modification date20141207
dbXrefs MIM : 609936
HGNC : HGNC
Ensembl : ENSG00000106723
HPRD : 18096
Vega : OTTHUMG00000020168
ProteinUniProt: Q9Y657
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SPIN1
BioGPS: 10927
PathwayNCI Pathway Interaction Database: SPIN1
KEGG: SPIN1
REACTOME: SPIN1
Pathway Commons: SPIN1
ContextiHOP: SPIN1
ligand binding site mutation search in PubMed: SPIN1
UCL Cancer Institute: SPIN1
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
GO:0009303rRNA transcription21960006
GO:0030177positive regulation of Wnt signaling pathway24589551


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Ligand binding site mutations for SPIN1
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
W165Y167CCOAD1
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 SPIN1
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
W165Y167C-1.0719794
(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 SPIN1 from PDB

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Differential gene expression and gene-gene network for SPIN1
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 SPIN1 and the right PPI network was created from samples without mutations in the LBS of SPIN1. 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 SPIN1
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 SPIN1
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 SPIN1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of SPIN1
Multiple alignments for Q9Y657 in multiple species
LBSAA sequence# speciesSpecies
A119LPDRVATSRIS4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
A119LPDRVASSRIS2Gallus gallus, Gallus gallus
C96YDGFDCVYGLE6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
D173ITYEKDPVLYM6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
D184YQLLDDYKEGD6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
D189DYKEGDLRIMP6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
D249FIKFDDDFHIY6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
D250IKFDDDFHIYV6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
D95KYDGFDCVYGL6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
E142VEHMFETEDGS6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
E64QHGWREGNGPV3Mus musculus, Rattus norvegicus, Rattus norvegicus
E64QHGWKEGNGPV1Homo sapiens
E64QHGWKEGSGPV1Gallus gallus
E64QHGWKEGSGPI1Gallus gallus
F141AVEHMFETEDG6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
F251KFDDDFHIYVY6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
F94IKYDGFDCVYG6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
G93LIKYDGFDCVY6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
H252FDDDFHIYVYD6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
I123VATSRISDAHL4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
I123VASSRISDAHL2Gallus gallus, Gallus gallus
M140KAVEHMFETED6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
M162ARAPVMNTWFY4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
M162ARAPIMNTWFY2Gallus gallus, Gallus gallus
N163RAPVMNTWFYI4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
N163RAPIMNTWFYI2Gallus gallus, Gallus gallus
Q180VLYMYQLLDDY6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
R117EVLPDRVATSR4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
R117EVLPDRVASSR2Gallus gallus, Gallus gallus
R122RVATSRISDAH4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
R122RVASSRISDAH2Gallus gallus, Gallus gallus
R158GMVLARAPVMN4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
R158GMVLARAPIMN2Gallus gallus, Gallus gallus
T120PDRVATSRISD4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
T120PDRVASSRISD2Gallus gallus, Gallus gallus
T164APVMNTWFYIT4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
T164APIMNTWFYIT2Gallus gallus, Gallus gallus
W151GSKDEWRGMVL6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
W165PVMNTWFYITY4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
W165PIMNTWFYITY2Gallus gallus, Gallus gallus
W62RIQHGWREGNG3Mus musculus, Rattus norvegicus, Rattus norvegicus
W62RIQHGWKEGSG2Gallus gallus, Gallus gallus
W62RIQHGWKEGNG1Homo sapiens
W72GPVTQWKGTVL5Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus
W72GPITQWKGTVL1Gallus gallus
Y170WFYITYEKDPV6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
Y177KDPVLYMYQLL6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
Y179PVLYMYQLLDD6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
Y91LYLIKYDGFDC6Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus, Gallus gallus, Gallus gallus
Y98GFDCVYGLELN4Homo sapiens, Mus musculus, Rattus norvegicus, Rattus norvegicus
Y98GFDCVYGLELH2Gallus gallus, Gallus gallus


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