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 CASP6
Gene summary
Basic gene Info.Gene symbolCASP6
Gene namecaspase 6, apoptosis-related cysteine peptidase
SynonymsMCH2
CytomapUCSC genome browser: 4q25
Type of geneprotein-coding
RefGenesNM_001226.3,
NM_032992.2,
Descriptionapoptotic protease MCH-2caspase 6, apoptosis-related cysteine proteasecaspase-6
Modification date20141207
dbXrefs MIM : 601532
HGNC : HGNC
Ensembl : ENSG00000138794
HPRD : 03321
Vega : OTTHUMG00000131914
ProteinUniProt: P55212
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CASP6
BioGPS: 839
PathwayNCI Pathway Interaction Database: CASP6
KEGG: CASP6
REACTOME: CASP6
Pathway Commons: CASP6
ContextiHOP: CASP6
ligand binding site mutation search in PubMed: CASP6
UCL Cancer Institute: CASP6
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 CASP6
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
K36A34TSTAD1
L98L98HTHCA1
L98L98FUCEC1
R220R220WUCEC1
R260R259CUCEC1
K36A34TUCEC1
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 CASP6
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
L98L98H-1.63802
R260R259C-1.4934814
L98L98F-1.350782
K36A34T-0.79793497
R220R220W-0.6278771
(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 CASP6 from PDB

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Differential gene expression and gene-gene network for CASP6
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 CASP6 and the right PPI network was created from samples without mutations in the LBS of CASP6. 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 CASP6
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 CASP6
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 CASP6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4fxoAK36
ZNZINC(2+)4fxoBK36
ZNZINC(2+)4fxoCK36
IIIPeptide ligand (ARG,LEU,HIS,CYS,VAL,GLU,TRP,THR,ILE,LEU,GLU)4ejfAL98
IIIPeptide ligand (ARG,LEU,HIS,CYS,VAL,GLU,TRP,THR,ILE,LEU,GLU,ARG)4ejfBL98
IIIPeptide ligand (ARG,LEU,HIS,CYS,VAL,GLU,TRP,THR,ILE,LEU,GLU,ARG)4ejfDL98
IIIPeptide ligand (ACE,VAL,GLU,ILE,ASP)3od5AR220
IIIPeptide ligand (ACE,VAL,GLU,ILE,ASP)3od5BR220
IIIPeptide ligand (ACE,VAL,GLU,ILE,ASJ)3p4uBR220
IIIPeptide ligand (ACE,VAL,GLU,ILE,ASJ)3p4uDR220
IIIPeptide ligand (ACE,VAL,GLU,ILE,ASP)3s70AR220
IIIPeptide ligand (ACE,VAL,GLU,ILE,ASP)3s70CR220
IIIPeptide ligand (PHQ,VAL,GLU,ILE,4H0)4hvaAR220
IIIPeptide ligand (PHQ,VAL,GLU,ILE,4H0)4hvaBR220
MGMAGNESIUM(2+)3s70AR260


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Conservation information for LBS of CASP6
Multiple alignments for P55212 in multiple species
LBSAA sequence# speciesSpecies
A132IYAYDAKIEIQ2Homo sapiens, Bos taurus
A132VYAYDAKIEIQ1Mus musculus
A162IFIIQACRGSQ2Bos taurus, Mus musculus
A162IFIIQACRGNQ1Homo sapiens
A195TQVDAASVYTL2Bos taurus, Mus musculus
A195TEVDAASVYTL1Homo sapiens
A269CKDPSAIGKKQ1Homo sapiens
A269CRDPNAIGKKQ1Bos taurus
A269CKDPDAIGKKQ1Mus musculus
A93FNDLKAEELLL1Homo sapiens
A93FDDLRAEELLL1Bos taurus
A93FNDLRAEELLL1Mus musculus
C163FIIQACRGSQH2Bos taurus, Mus musculus
C163FIIQACRGNQH1Homo sapiens
C264RRVDFCKDPSA1Homo sapiens
C264RRVDFCRDPNA1Bos taurus
C264RRVDFCKDPDA1Mus musculus
C68ERRGTCADRDN1Homo sapiens
C68NRPGTSADRDN1Bos taurus
C68ERRGTNADRDN1Mus musculus
D131HIYAYDAKIEI2Homo sapiens, Bos taurus
D131HVYAYDAKIEI1Mus musculus
D266VDFCKDPSAIG1Homo sapiens
D266VDFCRDPNAIG1Bos taurus
D266VDFCKDPDAIG1Mus musculus
E123FLSHGEGNHIY2Homo sapiens, Bos taurus
E123FLSHGEGNHVY1Mus musculus
E135YDAKIEIQTLT3Homo sapiens, Bos taurus, Mus musculus
E214CYSVAEGYYSH3Homo sapiens, Bos taurus, Mus musculus
E221YYSHRETVNGS3Homo sapiens, Bos taurus, Mus musculus
E244YGSSLEFTELL2Homo sapiens, Mus musculus
E244FGSSLEFTELL1Bos taurus
E94NDLKAEELLLK1Homo sapiens
E94DDLRAEELLLK1Bos taurus
E94NDLRAEELLLK1Mus musculus
F263QRRVDFCKDPS1Homo sapiens
F263QRRVDFCRDPN1Bos taurus
F263QRRVDFCKDPD1Mus musculus
F289KKLHFFPKSN-1Homo sapiens
F289KKLHFSPKSK-1Bos taurus
F289KKLHFCPKPSK1Mus musculus
F56NHERFFWHLTL3Homo sapiens, Bos taurus, Mus musculus
G122VFLSHGEGNHI2Homo sapiens, Bos taurus
G122VFLSHGEGNHV1Mus musculus
G215YSVAEGYYSHR3Homo sapiens, Bos taurus, Mus musculus
G271DPSAIGKKQVP1Homo sapiens
G271DPNAIGKKQVP1Bos taurus
G271DPDAIGKKQVP1Mus musculus
H101LLLKIHEVSTV1Homo sapiens
H101LLLKIHEASTA1Bos taurus
H101LLLKIHEVSTS1Mus musculus
H121CVFLSHGEGNH3Homo sapiens, Bos taurus, Mus musculus
H126HGEGNHIYAYD2Homo sapiens, Bos taurus
H126HGEGNHVYAYD1Mus musculus
H168CRGNQHDVPVI1Homo sapiens
H168CRGSQHDVPVI1Bos taurus
H168CRGSQHDVPVV1Mus musculus
H219EGYYSHRETVN3Homo sapiens, Bos taurus, Mus musculus
H287LTKKLHFFPKS1Homo sapiens
H287LTKKLHFSPKS1Bos taurus
H287LTKKLHFCPKP1Mus musculus
H58ERFFWHLTLPE2Homo sapiens, Mus musculus
H58ERFFWHLTLPN1Bos taurus
K133YAYDAKIEIQT3Homo sapiens, Bos taurus, Mus musculus
K147LFKGDKCQSLV2Bos taurus, Mus musculus
K147LFKGDKCHSLV1Homo sapiens
K265RVDFCKDPSAI1Homo sapiens
K265RVDFCRDPNAI1Bos taurus
K265RVDFCKDPDAI1Mus musculus
K272PSAIGKKQVPC1Homo sapiens
K272PNAIGKKQVPC1Bos taurus
K272PDAIGKKQVPC1Mus musculus
K273SAIGKKQVPCF1Homo sapiens
K273NAIGKKQVPCF1Bos taurus
K273DAIGKKQVPCF1Mus musculus
K36FDPAEKYKMDH1Homo sapiens
K36FDPTEKYKMDH1Bos taurus
K36FDPAEQYKMDH1Mus musculus
L142QTLTGLFKGDK3Homo sapiens, Bos taurus, Mus musculus
L200ASVYTLPAGAD3Homo sapiens, Bos taurus, Mus musculus
L243KYGSSLEFTEL1Homo sapiens
L243KFGSSLEFTEL1Bos taurus
L243RYGSSLEFTEL1Mus musculus
L61FWHLTLPERRG2Homo sapiens, Mus musculus
L61FWHLTLPNRPG1Bos taurus
L97RAEELLLKIHE2Bos taurus, Mus musculus
L97KAEELLLKIHE1Homo sapiens
L98AEELLLKIHEV2Homo sapiens, Mus musculus
L98AEELLLKIHEA1Bos taurus
N125SHGEGNHIYAY2Homo sapiens, Bos taurus
N125SHGEGNHVYAY1Mus musculus
P201SVYTLPAGADF3Homo sapiens, Bos taurus, Mus musculus
P62WHLTLPERRGT2Homo sapiens, Mus musculus
P62WHLTLPNRPGT1Bos taurus
Q137AKIEIQTLTGL3Homo sapiens, Bos taurus, Mus musculus
Q161KIFIIQACRGS2Bos taurus, Mus musculus
Q161KIFIIQACRGN1Homo sapiens
R220GYYSHRETVNG3Homo sapiens, Bos taurus, Mus musculus
R260KVSQRRVDFCK2Homo sapiens, Mus musculus
R260KVSQRRVDFCR1Bos taurus
R64LTLPERRGTCA1Homo sapiens
R64LTLPNRPGTSA1Bos taurus
R64LTLPERRGTNA1Mus musculus
R65TLPERRGTCAD1Homo sapiens
R65TLPNRPGTSAD1Bos taurus
R65TLPERRGTNAD1Mus musculus
S120VCVFLSHGEGN1Homo sapiens
S120LCVFLSHGEGN1Bos taurus
S120ICVFLSHGEGN1Mus musculus
S196QVDAASVYTLP2Bos taurus, Mus musculus
S196EVDAASVYTLP1Homo sapiens
S218AEGYYSHRETV3Homo sapiens, Bos taurus, Mus musculus
T138KIEIQTLTGLF3Homo sapiens, Bos taurus, Mus musculus
T199AASVYTLPAGA3Homo sapiens, Bos taurus, Mus musculus
T222YSHRETVNGSW3Homo sapiens, Bos taurus, Mus musculus
V197VDAASVYTLPA3Homo sapiens, Bos taurus, Mus musculus
V212LMCYSVAEGYY3Homo sapiens, Bos taurus, Mus musculus
V261VSQRRVDFCKD2Homo sapiens, Mus musculus
V261VSQRRVDFCRD1Bos taurus
W227TVNGSWYIQDL3Homo sapiens, Bos taurus, Mus musculus
W57HERFFWHLTLP3Homo sapiens, Bos taurus, Mus musculus
Y128EGNHIYAYDAK2Homo sapiens, Bos taurus
Y128EGNHVYAYDAK1Mus musculus
Y198DAASVYTLPAG3Homo sapiens, Bos taurus, Mus musculus
Y216SVAEGYYSHRE3Homo sapiens, Bos taurus, Mus musculus
Y217VAEGYYSHRET3Homo sapiens, Bos taurus, Mus musculus


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