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 CASC5
Gene summary
Basic gene Info.Gene symbolCASC5
Gene namecancer susceptibility candidate 5
SynonymsAF15Q14|CT29|D40|KNL1|PPP1R55|Spc7|hKNL-1|hSpc105
CytomapUCSC genome browser: 15q14
Type of geneprotein-coding
RefGenesNM_144508.4,
NM_170589.4,
DescriptionALL1-fused gene from chromosome 15q14 proteinblinkin, bub-linking kinetochore proteincancer susceptibility candidate gene 5 proteincancer/testis antigen 29kinetochore null 1 homologkinetochore-null protein 1protein CASC5protein phosphatase 1, regul
Modification date20141219
dbXrefs MIM : 609173
HGNC : HGNC
Ensembl : ENSG00000137812
HPRD : 10634
Vega : OTTHUMG00000166532
ProteinUniProt: Q8NG31
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CASC5
BioGPS: 57082
PathwayNCI Pathway Interaction Database: CASC5
KEGG: CASC5
REACTOME: CASC5
Pathway Commons: CASC5
ContextiHOP: CASC5
ligand binding site mutation search in PubMed: CASC5
UCL Cancer Institute: CASC5
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
GO:0008608attachment of spindle microtubules to kinetochore17981135
GO:0010923negative regulation of phosphatase activity19389623
GO:0034501protein localization to kinetochore22331848
GO:0071173spindle assembly checkpoint17981135


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Ligand binding site mutations for CASC5
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
P2192P2192SSKCM1
V2150T2148ISKCM1
E2241E2241KUCEC1
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 CASC5
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
P2192P2192S-0.98373668
E2241E2241K-0.97495943
V2150T2148I-0.28608702
(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 CASC5 from PDB

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Differential gene expression and gene-gene network for CASC5
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 CASC5 and the right PPI network was created from samples without mutations in the LBS of CASC5. 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 CASC5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1858516Microcephaly, Primary Autosomal Recessive, 41GeneticVariation
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

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Pharmacological information for CASC5
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.
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 CASC5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of CASC5
Multiple alignments for Q8NG31 in multiple species
LBSAA sequence# speciesSpecies


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