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 SPSB1
Gene summary
Basic gene Info.Gene symbolSPSB1
Gene namesplA/ryanodine receptor domain and SOCS box containing 1
SynonymsSSB-1|SSB1
CytomapUCSC genome browser: 1p36.22
Type of geneprotein-coding
RefGenesNM_025106.3,
DescriptionSPRY domain-containing SOCS box protein 1SPRY domain-containing SOCS box protein SSB-1novel SPRY domain containing protein
Modification date20141207
dbXrefs MIM : 611657
HGNC : HGNC
Ensembl : ENSG00000171621
HPRD : 18106
Vega : OTTHUMG00000001279
ProteinUniProt: Q96BD6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SPSB1
BioGPS: 80176
PathwayNCI Pathway Interaction Database: SPSB1
KEGG: SPSB1
REACTOME: SPSB1
Pathway Commons: SPSB1
ContextiHOP: SPSB1
ligand binding site mutation search in PubMed: SPSB1
UCL Cancer Institute: SPSB1
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 SPSB1
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
N64F66SKIRC1
V80V80LLUAD1
P79P79SSKCM1
T111A113TUCEC1
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 SPSB1
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
N64F66S-1.4474626
P79P79S-0.90061408
T111A113T-0.6791465
V80V80L-0.33743567
(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 SPSB1 from PDB

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Differential gene expression and gene-gene network for SPSB1
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 SPSB1 and the right PPI network was created from samples without mutations in the LBS of SPSB1. 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 SPSB1
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 SPSB1
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 SPSB1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ASP,ILE,ASN,ASN,ASN,ASN,ASN,ILE,VAL,GLU,ASP,VAL,GLU,ARG,LYS,ARG,GLU,PHE)3f2oAN64 P79 V80 T111
IIIPeptide ligand (ASP,ILE,ASN,ASN,ASN,ASN,ASN,ILE,VAL,GLU,ASP,VAL,GLU,ARG,LYS)3f2oBN64 P79 V80 T111
IIIPeptide ligand (ASN,GLU,LEU,ASN,ASN,ASN,LEU,PRO)2jk9AP79 V80 T111


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Conservation information for LBS of SPSB1
Multiple alignments for Q96BD6 in multiple species
LBSAA sequence# speciesSpecies
A81HRHPVAQSTDA3Homo sapiens, Mus musculus, Bos taurus
G110AMRQRGTHAVV3Homo sapiens, Mus musculus, Bos taurus
G218VSAVWGHCEIR3Homo sapiens, Mus musculus, Bos taurus
H125ADAPLHSVGYT3Homo sapiens, Mus musculus, Bos taurus
L63NNDRSLNVFVK3Homo sapiens, Mus musculus, Bos taurus
N64NDRSLNVFVKE3Homo sapiens, Mus musculus, Bos taurus
P79IFHRHPVAQST3Homo sapiens, Mus musculus, Bos taurus
R77KLIFHRHPVAQ3Homo sapiens, Mus musculus, Bos taurus
S62NNNDRSLNVFV3Homo sapiens, Mus musculus, Bos taurus
T111MRQRGTHAVVG3Homo sapiens, Mus musculus, Bos taurus
V127APLHSVGYTTL3Homo sapiens, Mus musculus, Bos taurus
V216PVVSAVWGHCE3Homo sapiens, Mus musculus, Bos taurus
V80FHRHPVAQSTD3Homo sapiens, Mus musculus, Bos taurus
W217VVSAVWGHCEI3Homo sapiens, Mus musculus, Bos taurus
Y129LHSVGYTTLVG3Homo sapiens, Mus musculus, Bos taurus


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