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 DDX59
Gene summary
Basic gene Info.Gene symbolDDX59
Gene nameDEAD (Asp-Glu-Ala-Asp) box polypeptide 59
SynonymsOFD5|ZNHIT5
CytomapUCSC genome browser: 1q32.1
Type of geneprotein-coding
RefGenesNM_031306.2,
NM_001031725.4,
DescriptionDEAD box protein 59probable ATP-dependent RNA helicase DDX59zinc finger HIT domain-containing protein 5
Modification date20141207
dbXrefs MIM : 615464
HGNC : HGNC
Ensembl : ENSG00000118197
HPRD : 10893
Vega : OTTHUMG00000035725
ProteinUniProt: Q5T1V6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DDX59
BioGPS: 83479
PathwayNCI Pathway Interaction Database: DDX59
KEGG: DDX59
REACTOME: DDX59
Pathway Commons: DDX59
ContextiHOP: DDX59
ligand binding site mutation search in PubMed: DDX59
UCL Cancer Institute: DDX59
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 DDX59
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
C131E130DHNSC1
C131A133VUCEC1
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 DDX59
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
C131E130D-1.2732263
C131A133V-0.35673689
(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 DDX59 from PDB

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Differential gene expression and gene-gene network for DDX59
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 DDX59 and the right PPI network was created from samples without mutations in the LBS of DDX59. 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 DDX59
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1868118Orofaciodigital syndrome 51GeneticVariation

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

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Pharmacological information for DDX59
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 DDX59 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of DDX59
Multiple alignments for Q5T1V6 in multiple species
LBSAA sequence# speciesSpecies
C108PGEPVCVVCGR2Mus musculus, Rattus norvegicus
C108PGEPICVVCGR1Homo sapiens
C108SGEPKCVICSR1Arabidopsis thaliana
C111PVCVVCGRYGE2Mus musculus, Rattus norvegicus
C111PICVVCGRYGE1Homo sapiens
C111PKCVICSRYGE1Arabidopsis thaliana
C127TDEDVCSLECK3Homo sapiens, Mus musculus, Rattus norvegicus
C127TNDDVCSLECK1Arabidopsis thaliana
C131VCSLECKAKHL3Homo sapiens, Mus musculus, Rattus norvegicus
C131VCSLECKQALL1Arabidopsis thaliana


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