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 PASK
Gene summary
Basic gene Info.Gene symbolPASK
Gene namePAS domain containing serine/threonine kinase
SynonymsPASKIN|STK37
CytomapUCSC genome browser: 2q37.3
Type of geneprotein-coding
RefGenesNM_001252119.1,
NM_001252120.1,NM_001252122.1,NM_001252124.1,NM_015148.3,
DescriptionPAS domain-containing serine/threonine-protein kinaseper-arnt-sim (PAS) domain kinase
Modification date20141207
dbXrefs MIM : 607505
HGNC : HGNC
Ensembl : ENSG00000115687
HPRD : 06328
Vega : OTTHUMG00000133392
ProteinUniProt: Q96RG2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PASK
BioGPS: 23178
PathwayNCI Pathway Interaction Database: PASK
KEGG: PASK
REACTOME: PASK
Pathway Commons: PASK
ContextiHOP: PASK
ligand binding site mutation search in PubMed: PASK
UCL Cancer Institute: PASK
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 phosphorylation16275910
GO:0045719negative regulation of glycogen biosynthetic process16275910
GO:0046777protein autophosphorylation20943661


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Ligand binding site mutations for PASK
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
E1199E1199QLUAD1
H1084G1085SUCEC1
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 PASK
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
E1199E1199Q-1.0029452
H1084G1085S-0.63097245
(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 PASK from PDB

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Differential gene expression and gene-gene network for PASK
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 PASK and the right PPI network was created from samples without mutations in the LBS of PASK. 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 PASK
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0004352Autistic Disorder1Biomarker
umls:C2931817Chromosome 2q37 deletion syndrome1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

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Pharmacological information for PASK
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.

Gene-centered drug-gene interaction network
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 PASK go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)3dlsAE1199
MGMAGNESIUM(2+)3dlsBE1199
MGMAGNESIUM(2+)3dlsCE1199
ADPADP3dlsAH1084
ADPADP3dlsBH1084
ADPADP3dlsCH1084
ADPADP3dlsDH1084
ADPADP3dlsEH1084
ADPADP3dlsFH1084


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Conservation information for LBS of PASK
Multiple alignments for Q96RG2 in multiple species
LBSAA sequence# speciesSpecies


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