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 IGF1
Gene summary
Basic gene Info.Gene symbolIGF1
Gene nameinsulin-like growth factor 1 (somatomedin C)
SynonymsIGF-I|IGF1A|IGFI
CytomapUCSC genome browser: 12q23.2
Type of geneprotein-coding
RefGenesNM_000618.3,
NM_001111283.1,NM_001111284.1,NM_001111285.1,
DescriptionIGF-IAIGF-IBMGFinsulin-like growth factor Iinsulin-like growth factor IAinsulin-like growth factor IBmechano growth factorsomatomedin-C
Modification date20141222
dbXrefs MIM : 147440
HGNC : HGNC
Ensembl : ENSG00000017427
HPRD : 00936
Vega : OTTHUMG00000149910
ProteinUniProt: P05019
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IGF1
BioGPS: 3479
PathwayNCI Pathway Interaction Database: IGF1
KEGG: IGF1
REACTOME: IGF1
Pathway Commons: IGF1
ContextiHOP: IGF1
ligand binding site mutation search in PubMed: IGF1
UCL Cancer Institute: IGF1
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:0001775cell activation22797923
GO:0008284positive regulation of cell proliferation12746903
GO:0010613positive regulation of cardiac muscle hypertrophy19654000
GO:0014068positive regulation of phosphatidylinositol 3-kinase signaling7688386
GO:0014834skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration17531227
GO:0014904myotube cell development17531227
GO:0014911positive regulation of smooth muscle cell migration10766744
GO:0030166proteoglycan biosynthetic process12746903
GO:0033160positive regulation of protein import into nucleus, translocation19654000
GO:0034392negative regulation of smooth muscle cell apoptotic process16942485
GO:0035630bone mineralization involved in bone maturation16433617
GO:0042104positive regulation of activated T cell proliferation15694994
GO:0042523positive regulation of tyrosine phosphorylation of Stat5 protein9722506
GO:0043388positive regulation of DNA binding19654000
GO:0043410positive regulation of MAPK cascade19654000
GO:0043568positive regulation of insulin-like growth factor receptor signaling pathway10766744
GO:0045445myoblast differentiation17531227
GO:0045669positive regulation of osteoblast differentiation16433617
GO:0045725positive regulation of glycogen biosynthetic process21076856
GO:0045740positive regulation of DNA replication7688386
GO:0045821positive regulation of glycolytic process7688386
GO:0045840positive regulation of mitosis10644978
GO:0045893positive regulation of transcription, DNA-templated19654000
GO:0045944positive regulation of transcription from RNA polymerase II promoter16433617
GO:0046326positive regulation of glucose import21076856
GO:0046579positive regulation of Ras protein signal transduction9722506
GO:0048015phosphatidylinositol-mediated signaling7692086
GO:0048146positive regulation of fibroblast proliferation7188854
GO:0048661positive regulation of smooth muscle cell proliferation10766744
GO:0050679positive regulation of epithelial cell proliferation7188854
GO:0050731positive regulation of peptidyl-tyrosine phosphorylation7782332
GO:0051450myoblast proliferation17531227
GO:0070886positive regulation of calcineurin-NFAT signaling cascade19654000
GO:2001237negative regulation of extrinsic apoptotic signaling pathway16942485


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Ligand binding site mutations for IGF1
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
Y72F71CGBM1
G55G55WLUAD1
L105,M107E106VLUAD1
G90G90VLUAD1
V65G67RLUSC1
F97R98QLUSC1
D93D93NSKCM1
F97R98QSKCM1
F97R98QSTAD1
A56A56DUCEC1
V65G67EUCEC1
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 IGF1
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
Y72F71C-1.6062434
F97R98Q-1.558337
M107E106V-0.67949732
L105E106V-0.67949732
D93D93N-0.65728455
A56A56D-0.37952773
G90G90V-0.34642775
V65G67E-0.3335872
V65G67R-0.28223049
G55G55W-0.19646089
(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 IGF1 from PDB

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Differential gene expression and gene-gene network for IGF1
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 IGF1 and the right PPI network was created from samples without mutations in the LBS of IGF1. 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 IGF1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001206Acromegaly37Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms34AlteredExpression, Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms14AlteredExpression, Biomarker, GeneticVariation
umls:C0001430Adenoma14Biomarker, GeneticVariation
umls:C0027627Neoplasm Metastasis14Biomarker
umls:C0026846Muscular Atrophy11Biomarker, Therapeutic
umls:C1837475Insulin-Like Growth Factor I Deficiency10Biomarker, GeneticVariation
umls:C0020538Hypertension10AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0002395Alzheimer Disease10AlteredExpression, Biomarker, GeneticVariation
umls:C0011854Diabetes Mellitus, Type 110Biomarker, GeneticVariation, Therapeutic
umls:C0151744Myocardial Ischemia7AlteredExpression, Biomarker
umls:C0034069Pulmonary Fibrosis6AlteredExpression, Biomarker
umls:C0022658Kidney Diseases5AlteredExpression, Biomarker, Therapeutic
umls:C0014175Endometriosis5AlteredExpression, Biomarker
umls:C0022661Kidney Failure, Chronic5Biomarker, Therapeutic
umls:C0010346Crohn Disease4Biomarker
umls:C0032019Pituitary Neoplasms4Biomarker
umls:C0011853Diabetes Mellitus, Experimental3Biomarker, Therapeutic
umls:C0024668Mammary Neoplasms, Experimental3Biomarker
umls:C0000786Abortion, Spontaneous2Biomarker, GeneticVariation
umls:C0004352Autistic Disorder2Biomarker, GeneticVariation
umls:C0005944Bone Diseases, Metabolic2GeneticVariation, Therapeutic
umls:C0034013Puberty, Precocious2Biomarker, GeneticVariation
umls:C0005695Urinary Bladder Neoplasms2Biomarker
umls:C0008370Cholestasis2GeneticVariation, Therapeutic
umls:C0023893Liver Cirrhosis, Experimental2Therapeutic
umls:C0027746Nerve Degeneration2Therapeutic
umls:C0031117Peripheral Nervous System Diseases2Therapeutic
umls:C2609414Acute Kidney Injury1Therapeutic
umls:C0018800Cardiomegaly1Biomarker
umls:C0010034Corneal Diseases1Therapeutic
umls:C0011303Demyelinating Diseases1Therapeutic
umls:C0853897Diabetic Cardiomyopathies1Therapeutic
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C3658338Drug-Related Side Effects and Adverse Reactions1Therapeutic
umls:C1720887Female Urogenital Diseases1Biomarker
umls:C0019284Hernia, Diaphragmatic1Biomarker
umls:C0020429Hyperalgesia1Therapeutic
umls:C0027626Neoplasm Invasiveness1Biomarker

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

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Pharmacological information for IGF1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB01890N,N-bis(3-(D-gluconamido)propyl)deoxycholamideSmall molecule
ExperimentalDB02643N-Dodecyl-N,N-Dimethyl-3-Ammonio-1-PropanesulfonateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IGF1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of IGF1
Multiple alignments for P05019 in multiple species
LBSAA sequence# speciesSpecies


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