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 ILK
Gene summary
Basic gene Info.Gene symbolILK
Gene nameintegrin-linked kinase
SynonymsHEL-S-28|ILK-1|ILK-2|P59|p59ILK
CytomapUCSC genome browser: 11p15.4
Type of geneprotein-coding
RefGenesNM_001014794.2,
NM_001014795.2,NM_001278441.1,NM_001278442.1,NM_004517.3,
Description59 kDa serine/threonine-protein kinaseepididymis secretory protein Li 28integrin-linked kinase-2integrin-linked protein kinase
Modification date20141222
dbXrefs MIM : 602366
HGNC : HGNC
Ensembl : ENSG00000166333
HPRD : 03842
Vega : OTTHUMG00000133407
ProteinUniProt: Q13418
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ILK
BioGPS: 3611
PathwayNCI Pathway Interaction Database: ILK
KEGG: ILK
REACTOME: ILK
Pathway Commons: ILK
ContextiHOP: ILK
ligand binding site mutation search in PubMed: ILK
UCL Cancer Institute: ILK
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006468protein phosphorylation10871859
GO:0007229integrin-mediated signaling pathway9366252


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Ligand binding site mutations for ILK
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
K341F342LCOAD1
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 ILK
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
K341F342L-0.355436
(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 ILK from PDB

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Differential gene expression and gene-gene network for ILK
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 ILK and the right PPI network was created from samples without mutations in the LBS of ILK. 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 ILK
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0236736Cocaine-Related Disorders2Biomarker
umls:C0009376Colonic Polyps1Biomarker
umls:C0014544Epilepsy1Therapeutic
umls:C0007787Ischemic Attack, Transient1Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Biomarker

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

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Pharmacological information for ILK
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 ILK go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ATPATP3kmwAK341
ATPATP3repAK341


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Conservation information for LBS of ILK
Multiple alignments for Q13418 in multiple species
LBSAA sequence# speciesSpecies
D339RISMADVKFSF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D339KLSMADTKFSF1Caenorhabditis elegans
H270PTLITHWMPYG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H270LVIISQYMPFG1Caenorhabditis elegans
K220NDIVVKVLKVR3Homo sapiens, Mus musculus, Rattus norvegicus
K220NDIVARILNVQ1Caenorhabditis elegans
K220NDIVVKMLKVR1Bos taurus
K341SMADVKFSFQC4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K341SMADTKFSFQE1Caenorhabditis elegans
L207NHSGELWKGRW4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L207SHSGELWRGKW1Caenorhabditis elegans
M272LITHWMPYGSL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
M272IISQYMPFGSL1Caenorhabditis elegans
M326NSRSVMIDEDM4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
M326SSKHVVVDEEL1Caenorhabditis elegans
N200FLAKLNENHSG3Mus musculus, Rattus norvegicus, Bos taurus
N200FLTKLNENHSG1Homo sapiens
N200LITKIAESHSG1Caenorhabditis elegans
N202AKLNENHSGEL3Mus musculus, Rattus norvegicus, Bos taurus
N202TKLNENHSGEL1Homo sapiens
N202TKIAESHSGEL1Caenorhabditis elegans
N279YGSLYNVLHEG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N279FGSLYNVLHEQ1Caenorhabditis elegans
R323HALNSRSVMID4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R323FYLSSKHVVVD1Caenorhabditis elegans
S204LNENHSGELWK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S204IAESHSGELWR1Caenorhabditis elegans
T269HPTLITHWMPY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T269NLVIISQYMPF1Caenorhabditis elegans
V218QGNDIVVKVLK3Homo sapiens, Mus musculus, Rattus norvegicus
V218QGNDIVARILN1Caenorhabditis elegans
V218QGNDIVVKMLK1Bos taurus
W271TLITHWMPYGS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
W271VIISQYMPFGS1Caenorhabditis elegans


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