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 CASP7
Gene summary
Basic gene Info.Gene symbolCASP7
Gene namecaspase 7, apoptosis-related cysteine peptidase
SynonymsCASP-7|CMH-1|ICE-LAP3|LICE2|MCH3
CytomapUCSC genome browser: 10q25
Type of geneprotein-coding
RefGenesNM_001227.4,
NM_001267056.1,NM_001267057.1,NM_001267058.1,NM_033338.5,
NM_033339.4,NM_033340.3,
DescriptionICE-like apoptotic protease 3apoptotic protease MCH-3caspase 7, apoptosis-related cysteine proteasecaspase-7
Modification date20141207
dbXrefs MIM : 601761
HGNC : HGNC
Ensembl : ENSG00000165806
HPRD : 03457
Vega : OTTHUMG00000019076
ProteinUniProt: P55210
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CASP7
BioGPS: 840
PathwayNCI Pathway Interaction Database: CASP7
KEGG: CASP7
REACTOME: CASP7
Pathway Commons: CASP7
ContextiHOP: CASP7
ligand binding site mutation search in PubMed: CASP7
UCL Cancer Institute: CASP7
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:0006508proteolysis12888622


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Ligand binding site mutations for CASP7
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
Y223S224FBRCA1
S234S234NCOAD1
R233R233WKIRC1
Y211P209HLUSC1
V292,C290V291LOV1
G83G83SSKCM1
K160K160ESKCM1
P235P235SSKCM1
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 CASP7
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
G83G83S-1.1682695
S234S234N-0.95422294
R233R233W-0.81308593
K160K160E-0.73639928
V292V291L-0.54354254
C290V291L-0.54354254
Y211P209H-0.38768405
P235P235S-0.16125779
Y223S224F-0.10623597
(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 CASP7 from PDB

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Differential gene expression and gene-gene network for CASP7
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 CASP7 and the right PPI network was created from samples without mutations in the LBS of CASP7. 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 CASP7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms1Biomarker
umls:C0023467Leukemia, Myeloid, Acute1Biomarker
umls:C0027055Myocardial Reperfusion Injury1Biomarker
umls:C0042900Vitiligo1Biomarker

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

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Pharmacological information for CASP7
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
ExperimentalDB03384FicaSmall molecule
InvestigationalDB05408IDN-6556Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CASP7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FXNFICA1shlBC290 V292
IIIPeptide ligand (THR,HIS,ALA,ASP,TYR,LEU,LEU,ARG,THR,GLY,GLN,VAL,VAL,ASP,ILE,SER,ASP,THR)1i51AG83
IIIPeptide ligand (THR,HIS,ALA,ASP,TYR,LEU,LEU,ARG,THR,GLY,GLN,VAL,VAL,ASP,ILE,SER,ASP,THR)1i51CG83
IIIPeptide ligand (GLU,THR,HIS,ALA,ASP,TYR,LEU,LEU,ARG,THR,GLY,GLN,VAL,VAL,ASP,ILE,SER)1i4oAG83 R233
IIIPeptide ligand (GLU,THR,HIS,ALA,ASP,TYR,LEU,LEU,ARG,THR,GLY,GLN,VAL,VAL,ASP,ILE,SER)1i4oBG83 R233 P235
NXNLONIDAMINE1shjAK160 Y211 Y223 C290 V292
IIIPeptide ligand (ACE,TRP,GLU,HIS,ASJ)2qljBR233
IIIPeptide ligand (ACE,ILE,GLU,PRO,ASJ)2ql7BR233 P235
IIIPeptide ligand (ACE,GLU,SER,MET,ASJ)2qlbBR233 P235
IIIPeptide ligand (ACE,TYR,VAL,ALA,ASP)3ibcBR233 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASP,0QE)4jr2AR233 P235
IIIPeptide ligand (ACE,1MH,ASP,B3L,HLX,1U8)4jj8AR233 P235
IIIPeptide ligand (ACE,1MH,ASP,B3L,HLX,1U8)4jj8BR233 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASP)1f1jAR233 S234 P235
IIIPeptide ligand (THR,HIS,ALA,ASP,TYR,LEU,LEU,ARG,THR,GLY,GLN,VAL,VAL,ASP,ILE,SER,ASP,THR)1i51BR233 S234 P235
IIIPeptide ligand (THR,HIS,ALA,ASP,TYR,LEU,LEU,ARG,THR,GLY,GLN,VAL,VAL,ASP,ILE,SER,ASP,THR)1i51DR233 S234 P235
IIIPeptide ligand (ACE,ASP,MET,GLN,ASP)2ql5BR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLN,MET,ASJ)2ql9BR233 S234 P235
IIIPeptide ligand (ACE,ASP,ASN,LEU,ASJ)2qlfBR233 S234 P235
IIIPeptide ligand (ACE,LEU,ASP,GLU,SER,ASJ)3edrBR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASJ)3h1pAR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASJ)3h1pBR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASP,0QE)4jr1AR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASP,0QE)4jr1BR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASP,0QE)4jr2BR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASJ)4hqrAR233 S234 P235
IIIPeptide ligand (ACE,ASP,GLU,VAL,ASJ)4hqrBR233 S234 P235
0TECHLORO{METHYL HYDROGENATO(3-)-KAPPA~2~N,S [PYRIDIN-2- YL(PYRIDIN-2(1H)-YLIDENE-KAPPAN) METHYL]CARBONODITHIOHYDRAZONATE}COPPER4feaAV292
NXNLONIDAMINE1shjBY211 Y223 C290 V292
0TECHLORO{METHYL HYDROGENATO(3-)-KAPPA~2~N,S [PYRIDIN-2- YL(PYRIDIN-2(1H)-YLIDENE-KAPPAN) METHYL]CARBONODITHIOHYDRAZONATE}COPPER4feaAY223 C290
FXNFICA1shlAY223 V292
FXNFICA1shlBY223 V292


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Conservation information for LBS of CASP7
Multiple alignments for P55210 in multiple species
LBSAA sequence# speciesSpecies
A185LFFIQACRGTE2Homo sapiens, Mus musculus
A185LFFIQACQGDR2Drosophila melanogaster, Drosophila melanogaster
C186FFIQACRGTEL2Homo sapiens, Mus musculus
C186FFIQACQGDRL2Drosophila melanogaster, Drosophila melanogaster
C290KKQIPCVVSML1Homo sapiens
C290KKQIPCMVSML1Mus musculus
C290QKQIPCITTML1Drosophila melanogaster
C290QKQIPCLTSML1Drosophila melanogaster
D278ESQS-DDPHFH1Homo sapiens
D278ESQS-DDPRFN1Mus musculus
D278ESCTPDTPEMH1Drosophila melanogaster
D278ESNVPATPMMD1Drosophila melanogaster
D279SQS-DDPHFHE1Homo sapiens
D279SQS-DDPRFNE1Mus musculus
D279SCTPDTPEMHQ1Drosophila melanogaster
D279SNVPATPMMDR1Drosophila melanogaster
E147LSHGEENVIYG1Homo sapiens
E147LSHGEEDLIYG1Mus musculus
E147LSHGEMGYIYA1Drosophila melanogaster
E147LSHGEHGYLYA1Drosophila melanogaster
E216YKIPVEADFLF1Homo sapiens
E216NKIPVEADFLF1Mus musculus
E216YKIPVHADFLI1Drosophila melanogaster
E216YKIPIHADFLF1Drosophila melanogaster
E257HGKDLEIMQIL2Homo sapiens, Mus musculus
E257NGKRLDILTLL1Drosophila melanogaster
E257NGKKYDLLTLL1Drosophila melanogaster
E274VARHFESQS-D2Homo sapiens, Mus musculus
E274VAVDFESCTPD1Drosophila melanogaster
E274VALDFESNVPA1Drosophila melanogaster
E298SMLTKELYFSQ1Homo sapiens
E298SMLTKELYFSR1Mus musculus
E298TMLTRILRFSD1Drosophila melanogaster
E298SMLTRILRFGD1Drosophila melanogaster
F221EADFLFAYSTV2Homo sapiens, Mus musculus
F221HADFLIAYSTV1Drosophila melanogaster
F221HADFLFSYSTI1Drosophila melanogaster
F282-DDPHFHEKKQ1Homo sapiens
F282-DDPRFNEKKQ1Mus musculus
F282PDTPEMHQQKQ1Drosophila melanogaster
F282PATPMMDRQKQ1Drosophila melanogaster
G145ILLSHGEENVI1Homo sapiens
G145VLLSHGEEDLI1Mus musculus
G145AILSHGEMGYI1Drosophila melanogaster
G145AILSHGEHGYL1Drosophila melanogaster
G236SWRSPGRGSWF1Homo sapiens
G236SWRNPGKGSWF1Mus musculus
G236SWRNTTRGSWF1Drosophila melanogaster
G236SWRNINNGSWY1Drosophila melanogaster
G83FDKVTGMGVRN1Homo sapiens
G83FDKATGMDVRN1Mus musculus
G83FE-VPTLKSRA1Drosophila melanogaster
G83FD-IPSLKSRT1Drosophila melanogaster
G85KVTGMGVRNGT1Homo sapiens
G85KATGMDVRNGT1Mus musculus
G85-VPTLKSRAGT1Drosophila melanogaster
G85-IPSLKSRTGT1Drosophila melanogaster
H144CILLSHGEENV1Homo sapiens
H144CVLLSHGEEDL1Mus musculus
H144VAILSHGEMGY1Drosophila melanogaster
H144VAILSHGEHGY1Drosophila melanogaster
H281S-DDPHFHEKK1Homo sapiens
H281S-DDPRFNEKK1Mus musculus
H281TPDTPEMHQQK1Drosophila melanogaster
H281VPATPMMDRQK1Drosophila melanogaster
I159DGVTPIKDLTA2Homo sapiens, Mus musculus
I159DTQYKLDNIWS1Drosophila melanogaster
I159DTQYKLDNIWH1Drosophila melanogaster
I183PKLFFIQACRG2Homo sapiens, Mus musculus
I183PKLFFIQACQG2Drosophila melanogaster, Drosophila melanogaster
I213NPRYKIPVEAD1Homo sapiens
I213NPRNKIPVEAD1Mus musculus
I213SMSYKIPVHAD1Drosophila melanogaster
I213STSYKIPIHAD1Drosophila melanogaster
K160GVTPIKDLTAH2Homo sapiens, Mus musculus
K160TQYKLDNIWSF1Drosophila melanogaster
K160TQYKLDNIWHY1Drosophila melanogaster
K254LEEHGKDLEIM1Homo sapiens
K254LNEHGKDLEIM1Mus musculus
K254LAANGKRLDIL1Drosophila melanogaster
K254LNANGKKYDLL1Drosophila melanogaster
M294PCVVSMLTKEL1Homo sapiens
M294PCMVSMLTKEL1Mus musculus
M294PCITTMLTRIL1Drosophila melanogaster
M294PCLTSMLTRIL1Drosophila melanogaster
M84DKVTGMGVRNG1Homo sapiens
M84DKATGMDVRNG1Mus musculus
M84E-VPTLKSRAG1Drosophila melanogaster
M84D-IPSLKSRTG1Drosophila melanogaster
N88GMGVRNGTDKD1Homo sapiens
N88GMDVRNGTDKD1Mus musculus
N88TLKSRAGTNVD1Drosophila melanogaster
N88SLKSRTGTNVD1Drosophila melanogaster
P214PRYKIPVEADF1Homo sapiens
P214PRNKIPVEADF1Mus musculus
P214MSYKIPVHADF1Drosophila melanogaster
P214TSYKIPIHADF1Drosophila melanogaster
P235YSWRSPGRGSW1Homo sapiens
P235YSWRNPGKGSW1Mus musculus
P235YSWRNTTRGSW1Drosophila melanogaster
P235FSWRNINNGSW1Drosophila melanogaster
Q184KLFFIQACRGT2Homo sapiens, Mus musculus
Q184KLFFIQACQGD2Drosophila melanogaster, Drosophila melanogaster
Q260DLEIMQILTRV2Homo sapiens, Mus musculus
Q260RLDILTLLTFV1Drosophila melanogaster
Q260KYDLLTLLTFV1Drosophila melanogaster
Q276RHFESQS-DDP2Homo sapiens, Mus musculus
Q276VDFESCTPDTP1Drosophila melanogaster
Q276LDFESNVPATP1Drosophila melanogaster
Q54Homo sapiens, Mus musculus, Drosophila melanogaster, Drosophila melanogaster
R233GYYSWRSPGRG1Homo sapiens
R233GYYSWRNPGKG1Mus musculus
R233GFYSWRNTTRG1Drosophila melanogaster
R233GYFSWRNINNG1Drosophila melanogaster
R237WRSPGRGSWFV1Homo sapiens
R237WRNPGKGSWFV1Mus musculus
R237WRNTTRGSWFM1Drosophila melanogaster
R237WRNINNGSWYM1Drosophila melanogaster
R87TGMGVRNGTDK1Homo sapiens
R87TGMDVRNGTDK1Mus musculus
R87PTLKSRAGTNV1Drosophila melanogaster
R87PSLKSRTGTNV1Drosophila melanogaster
S143ACILLSHGEEN1Homo sapiens
S143ACVLLSHGEED1Mus musculus
S143LVAILSHGEMG1Drosophila melanogaster
S143AVAILSHGEHG1Drosophila melanogaster
S231VPGYYSWRSPG1Homo sapiens
S231VPGYYSWRNPG1Mus musculus
S231VPGFYSWRNTT1Drosophila melanogaster
S231IPGYFSWRNIN1Drosophila melanogaster
S234YYSWRSPGRGS1Homo sapiens
S234YYSWRNPGKGS1Mus musculus
S234FYSWRNTTRGS1Drosophila melanogaster
S234YFSWRNINNGS1Drosophila melanogaster
S275ARHFESQS-DD2Homo sapiens, Mus musculus
S275AVDFESCTPDT1Drosophila melanogaster
S275ALDFESNVPAT1Drosophila melanogaster
S277HFESQS-DDPH1Homo sapiens
S277HFESQS-DDPR1Mus musculus
S277DFESCTPDTPE1Drosophila melanogaster
S277DFESNVPATPM1Drosophila melanogaster
T189QACRGTELDDG2Homo sapiens, Mus musculus
T189QACQGDRLDGG2Drosophila melanogaster, Drosophila melanogaster
V215RYKIPVEADFL1Homo sapiens
V215RNKIPVEADFL1Mus musculus
V215SYKIPVHADFL1Drosophila melanogaster
V215SYKIPIHADFL1Drosophila melanogaster
V292QIPCVVSMLTK1Homo sapiens
V292QIPCMVSMLTK1Mus musculus
V292QIPCITTMLTR1Drosophila melanogaster
V292QIPCLTSMLTR1Drosophila melanogaster
W232PGYYSWRSPGR1Homo sapiens
W232PGYYSWRNPGK1Mus musculus
W232PGFYSWRNTTR1Drosophila melanogaster
W232PGYFSWRNINN1Drosophila melanogaster
W240PGRGSWFVQAL1Homo sapiens
W240PGKGSWFVQAL1Mus musculus
W240TTRGSWFMQSL1Drosophila melanogaster
W240INNGSWYMQSL1Drosophila melanogaster
Y211DANPRYKIPVE1Homo sapiens
Y211DANPRNKIPVE1Mus musculus
Y211DSSMSYKIPVH1Drosophila melanogaster
Y211ESSTSYKIPIH1Drosophila melanogaster
Y223DFLFAYSTVPG2Homo sapiens, Mus musculus
Y223DFLIAYSTVPG1Drosophila melanogaster
Y223DFLFSYSTIPG1Drosophila melanogaster
Y230TVPGYYSWRSP1Homo sapiens
Y230TVPGYYSWRNP1Mus musculus
Y230TVPGFYSWRNT1Drosophila melanogaster
Y230TIPGYFSWRNI1Drosophila melanogaster
Y300LTKELYFSQ--1Homo sapiens
Y300LTKELYFSR--1Mus musculus
Y300LTRILRFSDKQ1Drosophila melanogaster
Y300LTRILRFGDK-1Drosophila melanogaster


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