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 CAPNS1
Gene summary
Basic gene Info.Gene symbolCAPNS1
Gene namecalpain, small subunit 1
SynonymsCALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1
CytomapUCSC genome browser: 19q13.12
Type of geneprotein-coding
RefGenesNM_001003962.2,
NM_001302632.1,NM_001302633.1,NM_001749.3,
DescriptionCANP small subunitcalcium-activated neutral proteinase small subunitcalcium-dependent protease small subunit 1calcium-dependent protease, small subunitcalpain 4, small subunit (30K)calpain regulatory subunitcalpain small subunit 1calpain, small pol
Modification date20141222
dbXrefs MIM : 114170
HGNC : HGNC
Ensembl : ENSG00000126247
HPRD : 00240
Vega : OTTHUMG00000160811
ProteinUniProt: P04632
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CAPNS1
BioGPS: 826
PathwayNCI Pathway Interaction Database: CAPNS1
KEGG: CAPNS1
REACTOME: CAPNS1
Pathway Commons: CAPNS1
ContextiHOP: CAPNS1
ligand binding site mutation search in PubMed: CAPNS1
UCL Cancer Institute: CAPNS1
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 CAPNS1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Q100V98ICOAD1
Q100V98FGBM1
Q100F101LHNSC1
E163E163APRAD1
Q175A176DUCEC1
Q100,L104R102QUCEC1
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 CAPNS1
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
E163E163A-1.3268313
Q100V98F-1.0988036
Q100V98I-0.89419123
Q175A176D-0.51004284
Q100F101L-0.45592776
Q100R102Q-0.32745332
L104R102Q-0.32745332
(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 CAPNS1 from PDB

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Differential gene expression and gene-gene network for CAPNS1
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 CAPNS1 and the right PPI network was created from samples without mutations in the LBS of CAPNS1. 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 CAPNS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for CAPNS1
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
ExperimentalDB02570PD150606Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CAPNS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)4phjAE163
CACALCIUM(2+)4phjBE163
CACALCIUM(2+)4phkAE163
CACALCIUM(2+)4phkBE163
CACALCIUM(2+)4phmAE163
CACALCIUM(2+)4phmBE163
CACALCIUM(2+)4wq2AE163
CACALCIUM(2+)4wq2BE163
CACALCIUM(2+)4wq3AE163
CACALCIUM(2+)4wq3BE163
CACALCIUM(2+)5d69AE163
CACALCIUM(2+)5d69BE163
3SU(2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID4wq3AL104
3SU(2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID4wq3BQ100
2UB(Z)-3-(4-CHLOROPHENYL)-2-MERCAPTOACRYLIC ACID4phkAQ175
2UB(Z)-3-(4-CHLOROPHENYL)-2-MERCAPTOACRYLIC ACID4phkBQ175
2UD3-(5-BROMO-1H-INDOL-3-YL)-2-THIOXOPROPANOIC ACID4phmAQ175
2UD3-(5-BROMO-1H-INDOL-3-YL)-2-THIOXOPROPANOIC ACID4phmBQ175
3SU(2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID4wq2AQ175
3SU(2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID4wq2BQ175
3SU(2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID4wq3AQ175
3SU(2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID4wq3BQ175
57T(2E,2'Z)-2,2'-DISULFANEDIYLBIS[3-(4-IODOPHENYL)PROP-2- ENOIC ACID]5d69AQ175
57T(2E,2'Z)-2,2'-DISULFANEDIYLBIS[3-(4-IODOPHENYL)PROP-2- ENOIC ACID]5d69BQ175


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Conservation information for LBS of CAPNS1
Multiple alignments for P04632 in multiple species
LBSAA sequence# speciesSpecies
D152MVAVMDSDTTG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D154AVMDSDTTGKL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E114AGDDMEVSATE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E163KLGFEEFKYLW4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F164LGFEEFKYLWN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F226SGNMDFDNFIS2Homo sapiens, Mus musculus
F226TGNMDFDNFIS1Rattus norvegicus
F226GGNMDFDNFIS1Bos taurus
G160TTGKLGFEEFK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H131KVVTRHPDLKT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I123TELMNILNKVV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I171YLWNNIKKWQA2Mus musculus, Bos taurus
I171YLWNNIKRWQA1Homo sapiens
I171YLWNNIKKWQG1Rattus norvegicus
K126MNILNKVVTRH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K158SDTTGKLGFEE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K172LWNNIKRWQAI1Homo sapiens
K172LWNNIKKWQAI1Mus musculus
K172LWNNIKKWQGI1Rattus norvegicus
K172LWNNIKKWQAV1Bos taurus
L104RQFRRLFAQLA2Homo sapiens, Bos taurus
L104RQFRKLFVQLA2Mus musculus, Rattus norvegicus
L124ELMNILNKVVT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L134TRHPDLKTDGF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Q100SEEVRQFRRLF2Homo sapiens, Bos taurus
Q100SEEVRQFRKLF1Mus musculus
Q100SEEERQFRKLF1Rattus norvegicus
Q175NIKRWQAIYKQ1Homo sapiens
Q175NIKKWQAIYKR1Mus musculus
Q175NIKKWQGIYKR1Rattus norvegicus
Q175NIKKWQAVYKQ1Bos taurus
R130NKVVTRHPDLK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T156MDSDTTGKLGF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V127NILNKVVTRHP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V128ILNKVVTRHPD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
W168EFKYLWNNIKK3Mus musculus, Rattus norvegicus, Bos taurus
W168EFKYLWNNIKR1Homo sapiens


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