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 SCRIB
Gene summary
Basic gene Info.Gene symbolSCRIB
Gene namescribbled planar cell polarity protein
SynonymsCRIB1|SCRB1|SCRIB1|Vartul
CytomapUCSC genome browser: 8q24.3
Type of geneprotein-coding
RefGenesNM_015356.4,
NM_182706.4,
Descriptionprotein scribble homologscribbled homolog
Modification date20141207
dbXrefs MIM : 607733
HGNC : HGNC
Ensembl : ENSG00000180900
HPRD : 06984
Vega : OTTHUMG00000165154
ProteinUniProt: Q14160
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SCRIB
BioGPS: 23513
PathwayNCI Pathway Interaction Database: SCRIB
KEGG: SCRIB
REACTOME: SCRIB
Pathway Commons: SCRIB
ContextiHOP: SCRIB
ligand binding site mutation search in PubMed: SCRIB
UCL Cancer Institute: SCRIB
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:0008283cell proliferation16965391
GO:0045930negative regulation of mitotic cell cycle16965391


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Ligand binding site mutations for SCRIB
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
V1019V1019ILUSC1
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 SCRIB
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
V1019V1019I-1.191084
(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 SCRIB from PDB

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Differential gene expression and gene-gene network for SCRIB
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 SCRIB and the right PPI network was created from samples without mutations in the LBS of SCRIB. 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 SCRIB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027794Neural Tube Defects1GeneticVariation

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

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Pharmacological information for SCRIB
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 SCRIB go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of SCRIB
Multiple alignments for Q14160 in multiple species
LBSAA sequence# speciesSpecies
G1015AGGPLGLSIVG3Homo sapiens, Danio rerio, Mus musculus
G1015-----------1Caenorhabditis elegans
G1167QQSLLGLTHGE1Homo sapiens
G1167-----------1Caenorhabditis elegans
G1167NNSLLGMTHTE1Danio rerio
G1167QQSLLGLTHAE1Mus musculus
H1071VRDATHQEAVS1Homo sapiens
H1071MINASQDNAME1Caenorhabditis elegans
H1071LRHATHQEAVR1Danio rerio
H1071VREATHQEAVS1Mus musculus
I1018PLGLSIVGGSD3Homo sapiens, Danio rerio, Mus musculus
I1018-----------1Caenorhabditis elegans
K1040GVFISKVLPRG2Homo sapiens, Mus musculus
K1040-----------1Caenorhabditis elegans
K1040GVFISKVIPNG1Danio rerio
L1014RAGGPLGLSIV2Homo sapiens, Mus musculus
L1014-----------1Caenorhabditis elegans
L1014KAGGPLGLSIV1Danio rerio
L1016GGPLGLSIVGG3Homo sapiens, Danio rerio, Mus musculus
L1016-----------1Caenorhabditis elegans
L1078EAVSALLRPCL2Homo sapiens, Mus musculus
L1078NAMEAIKKRET1Caenorhabditis elegans
L1078EAVRALLSNKQ1Danio rerio
L1079AVSALLRPCLE2Homo sapiens, Mus musculus
L1079AMEAIKKRETV1Caenorhabditis elegans
L1079AVRALLSNKQE1Danio rerio
L1166NQQSLLGLTHG1Homo sapiens
L1166-----------1Caenorhabditis elegans
L1166GNNSLLGMTHT1Danio rerio
L1166NQQSLLGLTHA1Mus musculus
P1013PRAGGPLGLSI2Homo sapiens, Mus musculus
P1013-----------1Caenorhabditis elegans
P1013IKAGGPLGLSI1Danio rerio
S1017GPLGLSIVGGS3Homo sapiens, Danio rerio, Mus musculus
S1017-----------1Caenorhabditis elegans
S1025GGSDHSSHPFG2Homo sapiens, Mus musculus
S1025-----------1Caenorhabditis elegans
S1025GGSDHASHPFG1Danio rerio
S1026GSDHSSHPFGV2Homo sapiens, Mus musculus
S1026-----------1Caenorhabditis elegans
S1026GSDHASHPFGI1Danio rerio
S1039PGVFISKVLPR2Homo sapiens, Mus musculus
S1039-----------1Caenorhabditis elegans
S1039PGVFISKVIPN1Danio rerio
S1164EVNQQSLLGLT2Homo sapiens, Mus musculus
S1164-----------1Caenorhabditis elegans
S1164EVGNNSLLGMT1Danio rerio
V1019LGLSIVGGSDH3Homo sapiens, Danio rerio, Mus musculus
V1019-----------1Caenorhabditis elegans


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