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 CASP9
Gene summary
Basic gene Info.Gene symbolCASP9
Gene namecaspase 9, apoptosis-related cysteine peptidase
CytomapUCSC genome browser: 1p36.21
Type of geneprotein-coding
DescriptionICE-like apoptotic protease 6apoptotic protease MCH-6apoptotic protease activating factor 3caspase-9protein phosphatase 1, regulatory subunit 56
Modification date20141207
dbXrefs MIM : 602234
Ensembl : ENSG00000132906
HPRD : 03756
Vega : OTTHUMG00000002256
ProteinUniProt: P55211
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CASP9
BioGPS: 842
PathwayNCI Pathway Interaction Database: CASP9
Pathway Commons: CASP9
ContextiHOP: CASP9
ligand binding site mutation search in PubMed: CASP9
UCL Cancer Institute: CASP9
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006974cellular response to DNA damage stimulus15657060
GO:0034644cellular response to UV15657060
GO:0042770signal transduction in response to DNA damage15657060

Ligand binding site mutations for CASP9
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
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.

Protein structure related information for CASP9
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
(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 CASP9 from PDB

Differential gene expression and gene-gene network for CASP9
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 CASP9 and the right PPI network was created from samples without mutations in the LBS of CASP9. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CASP9
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033578Prostatic Neoplasms3Biomarker, GeneticVariation
umls:C0007786Brain Ischemia1Biomarker
umls:C0007787Ischemic Attack, Transient1Biomarker
umls:C0027055Myocardial Reperfusion Injury1Biomarker
umls:C0027765Nervous System Diseases1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker
umls:C0035305Retinal Detachment1Biomarker

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

Pharmacological information for CASP9
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 CASP9 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CASP9
Multiple alignments for P55211 in multiple species
LBSAA sequence# speciesSpecies

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