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 CANT1
Gene summary
Basic gene Info.Gene symbolCANT1
Gene namecalcium activated nucleotidase 1
SynonymsDBQD|SCAN-1|SCAN1|SHAPY
CytomapUCSC genome browser: 17q25.3
Type of geneprotein-coding
RefGenesNM_001159772.1,
NM_001159773.1,NM_138793.3,
DescriptionCa2+-dependent endoplasmic reticulum nucleoside diphosphataseapyrase homologmicromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossificationputative MAPK-activating protein PM09putative NF-kappa-B-activating prote
Modification date20141207
dbXrefs MIM : 613165
HGNC : HGNC
Ensembl : ENSG00000171302
HPRD : 13003
Vega : OTTHUMG00000177570
ProteinUniProt: Q8WVQ1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CANT1
BioGPS: 124583
PathwayNCI Pathway Interaction Database: CANT1
KEGG: CANT1
REACTOME: CANT1
Pathway Commons: CANT1
ContextiHOP: CANT1
ligand binding site mutation search in PubMed: CANT1
UCL Cancer Institute: CANT1
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 CANT1
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
E396I398MGBM1
S345G343DLUAD1
S345G343RSKCM1
R300R301CSTAD1
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 CANT1
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
E396I398M-1.0242033
R300R301C-0.62085024
S345G343D-0.42431898
S345G343R-0.19984801
(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 CANT1 from PDB

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Differential gene expression and gene-gene network for CANT1
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 CANT1 and the right PPI network was created from samples without mutations in the LBS of CANT1. 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 CANT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0432242Desbuquois syndrome8Biomarker, GeneticVariation

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

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Pharmacological information for CANT1
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
ExperimentalDB03486Phosphomethylphosphonic Acid Guanosyl EsterSmall molecule
ApprovedDB03754TrisSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CANT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of CANT1
Multiple alignments for Q8WVQ1 in multiple species
LBSAA sequence# speciesSpecies
D112IAVIADLDTGS2Mus musculus, Rattus norvegicus
D112IAVIADLDTES1Homo sapiens
D114VIADLDTESRA1Homo sapiens
D114VIADLDTGSRA1Mus musculus
D114VIADLDTGSKA1Rattus norvegicus
D169GMELSDLIVFN3Homo sapiens, Mus musculus, Rattus norvegicus
D182LYSVDDRTGVI2Mus musculus, Rattus norvegicus
D182LYSVDDRTGVV1Homo sapiens
D312YSEKDDERKGA1Homo sapiens
D312YSEKDDERKGS1Mus musculus
D312YSEREDERKGS1Rattus norvegicus
E215KGFKAEWLAVK3Homo sapiens, Mus musculus, Rattus norvegicus
E232GGLGKEWTTTT3Homo sapiens, Mus musculus, Rattus norvegicus
E284GYLIHESACWS3Homo sapiens, Mus musculus, Rattus norvegicus
E365ALKSEEDNGRI2Mus musculus, Rattus norvegicus
E365ALKSEEDSGRV1Homo sapiens
E396GSVKYEGIEFI2Homo sapiens, Rattus norvegicus
E396GTVKYEGIEFI1Mus musculus
I282PPGYLIHESAC3Homo sapiens, Mus musculus, Rattus norvegicus
K213VEKGFKAEWLA3Homo sapiens, Mus musculus, Rattus norvegicus
K231VGGLGKEWTTT3Homo sapiens, Mus musculus, Rattus norvegicus
K394KIGSVKYEGIE2Homo sapiens, Rattus norvegicus
K394KIGTVKYEGIE1Mus musculus
L229LYVGGLGKEWT3Homo sapiens, Mus musculus, Rattus norvegicus
R300WFFLPRRASHE2Mus musculus, Rattus norvegicus
R300WFFLPRRASQE1Homo sapiens
S168RGMELSDLIVF3Homo sapiens, Mus musculus, Rattus norvegicus
S345PTHGFSSFKFI3Homo sapiens, Mus musculus, Rattus norvegicus
T234LGKEWTTTTGE2Mus musculus, Rattus norvegicus
T234LGKEWTTTTGD1Homo sapiens
W233GLGKEWTTTTG3Homo sapiens, Mus musculus, Rattus norvegicus
Y307ASQERYSEKDD1Homo sapiens
Y307ASHERYSEKDD1Mus musculus
Y307ASHERYSERED1Rattus norvegicus


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