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 ITPK1
Gene summary
Basic gene Info.Gene symbolITPK1
Gene nameinositol-tetrakisphosphate 1-kinase
SynonymsITRPK1
CytomapUCSC genome browser: 14q31
Type of geneprotein-coding
RefGenesNM_001142593.1,
NM_001142594.1,NM_014216.4,
Descriptioninositol 1,3,4-triphosphate 5/6 kinaseinositol 1,3,4-trisphosphate 5/6 kinaseinositol 1,3,4-trisphosphate 5/6-kinaseinositol-triphosphate 5/6-kinaseins(1,3,4)P(3) 5/6-kinase
Modification date20141207
dbXrefs MIM : 601838
HGNC : HGNC
Ensembl : ENSG00000100605
HPRD : 03501
Vega : OTTHUMG00000171226
ProteinUniProt: Q13572
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ITPK1
BioGPS: 3705
PathwayNCI Pathway Interaction Database: ITPK1
KEGG: ITPK1
REACTOME: ITPK1
Pathway Commons: ITPK1
ContextiHOP: ITPK1
ligand binding site mutation search in PubMed: ITPK1
UCL Cancer Institute: ITPK1
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 ITPK1
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
I155P153SSKCM1
R106R106CUCEC1
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 ITPK1
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
R106R106C-1.4149369
I155P153S-1.3417334
(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 ITPK1 from PDB

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Differential gene expression and gene-gene network for ITPK1
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 ITPK1 and the right PPI network was created from samples without mutations in the LBS of ITPK1. 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 ITPK1
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 ITPK1
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 ITPK1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ANPAMP-PNP2q7dAR106 I155
ANPAMP-PNP2q7dBR106 I155
ADPADP2qb5AR106 I155
ADPADP2qb5BR106 I155


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Conservation information for LBS of ITPK1
Multiple alignments for Q13572 in multiple species
LBSAA sequence# speciesSpecies
D281SLFGIDIIINN4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
D281RLFNIDMIREH1Arabidopsis thaliana
D295-HAVIDINAFP3Homo sapiens, Gallus gallus, Bos taurus
D295VFYVIDINYFP1Arabidopsis thaliana
D295-HAVIDVNAFP1Mus musculus
F190CVVQNFINHNA3Homo sapiens, Bos taurus, Mus musculus
F190LVLQEFVNHGG1Arabidopsis thaliana
F190CVIQSFINHNA1Gallus gallus
H167GT-NSHEMAIV3Homo sapiens, Bos taurus, Mus musculus
H167GTAKSHQLYLA1Arabidopsis thaliana
H167GT-NSHEMAII1Gallus gallus
H193QNFINHNAVLY3Homo sapiens, Bos taurus, Mus musculus
H193QEFVNHGGVMF1Arabidopsis thaliana
H193QSFINHNAVLY1Gallus gallus
I155LAFPFICKTRV3Gallus gallus, Bos taurus, Mus musculus
I155LTFPFICKTRV1Homo sapiens
I155LKFPLVAKPLW1Arabidopsis thaliana
I191VVQNFINHNAV3Homo sapiens, Bos taurus, Mus musculus
I191VLQEFVNHGGV1Arabidopsis thaliana
I191VIQSFINHNAV1Gallus gallus
I283FGIDIIINNQT4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
I283FNIDMIREHGS1Arabidopsis thaliana
I294Q-HAVIDINAF3Homo sapiens, Gallus gallus, Bos taurus
I294NVFYVIDINYF1Arabidopsis thaliana
I294Q-HAVIDVNAF1Mus musculus
K157FPFICKTRVAH4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
K157FPLVAKPLWID1Arabidopsis thaliana
K199NAVLYKVFVVG4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
K199GGVMFKVFVVG1Arabidopsis thaliana
L197NHNAVLYKVFV4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
L197NHGGVMFKVFV1Arabidopsis thaliana
L215VQRPSLKNFSA3Homo sapiens, Bos taurus, Mus musculus
L215MRRFSLPNVSN1Arabidopsis thaliana
L215VKRPSLKNFSA1Gallus gallus
M169-NSHEMAIVFN3Homo sapiens, Bos taurus, Mus musculus
M169AKSHQLYLAYD1Arabidopsis thaliana
M169-NSHEMAIIFN1Gallus gallus
N189PCVVQNFINHN3Homo sapiens, Bos taurus, Mus musculus
N189PLVLQEFVNHG1Arabidopsis thaliana
N189PCVIQSFINHN1Gallus gallus
N297AVIDINAFPGY3Homo sapiens, Gallus gallus, Bos taurus
N297YVIDINYFPGY1Arabidopsis thaliana
N297AVIDVNAFPGY1Mus musculus
Q188PPCVVQNFINH3Homo sapiens, Bos taurus, Mus musculus
Q188PPLVLQEFVNH1Arabidopsis thaliana
Q188PPCVIQSFINH1Gallus gallus
R106RTLLDRSKSYE4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
R106QRIYNRQSMLQ1Arabidopsis thaliana
S214VVQRPSLKNFS3Homo sapiens, Bos taurus, Mus musculus
S214VMRRFSLPNVS1Arabidopsis thaliana
S214VVKRPSLKNFS1Gallus gallus
S232SIFFNSHNVSK4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
S232DGVFQFPRVSS1Arabidopsis thaliana
S236NSHNVSKPESS4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
S236QFPRVSSAAAS1Arabidopsis thaliana


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