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 DDX47
Gene summary
Basic gene Info.Gene symbolDDX47
Gene nameDEAD (Asp-Glu-Ala-Asp) box polypeptide 47
SynonymsE4-DBP|HQ0256|MSTP162|RRP3
CytomapUCSC genome browser: 12p13.1
Type of geneprotein-coding
RefGenesNM_016355.3,
NM_201224.1,
DescriptionDEAD box polypeptide 47DEAD box protein 47E4-DEAD box proteinprobable ATP-dependent RNA helicase DDX47
Modification date20141207
dbXrefs MIM : 615428
HGNC : HGNC
Ensembl : ENSG00000213782
HPRD : 10863
Vega : OTTHUMG00000168709
ProteinUniProt: Q9H0S4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DDX47
BioGPS: 51202
PathwayNCI Pathway Interaction Database: DDX47
KEGG: DDX47
REACTOME: DDX47
Pathway Commons: DDX47
ContextiHOP: DDX47
ligand binding site mutation search in PubMed: DDX47
UCL Cancer Institute: DDX47
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:0008625extrinsic apoptotic signaling pathway via death domain receptors15977068


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Ligand binding site mutations for DDX47
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
W44L42FLUSC1
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 DDX47
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
W44L42F-1.5032846
(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 DDX47 from PDB

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Differential gene expression and gene-gene network for DDX47
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 DDX47 and the right PPI network was created from samples without mutations in the LBS of DDX47. 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 DDX47
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 DDX47
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 DDX47 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
AMPAMP3berAW44


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Conservation information for LBS of DDX47
Multiple alignments for Q9H0S4 in multiple species
LBSAA sequence# speciesSpecies
F26---KTFKDLGV3Homo sapiens, Mus musculus, Bos taurus
F26EGFSSFRELDL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F26EIFESFTELDL1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F26ESFESFSELNL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F26---KTFKELGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F26TPTKSFRDLGI1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F26TVKKTFKDLGI1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
F26---KTFAELGV1Arabidopsis thaliana
F26---STFAELGV1Oryza sativa subsp. japonica
F26---KSFAELGV1Caenorhabditis elegans
G71GLAETGSGKTG4Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus
G71GLAQTGSGKTA4Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (
G71GIAETGSGKTA2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G71GLAQTGSGKTG1Arabidopsis thaliana
G71GLGQTGSGKTG1Oryza sativa subsp. japonica
G73AETGSGKTGAF4Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus
G73AQTGSGKTAAF4Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (
G73AETGSGKTAAF2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G73AQTGSGKTGAF1Arabidopsis thaliana
G73GQTGSGKTGAF1Oryza sativa subsp. japonica
K46QLGWTKPTKIQ2Homo sapiens, Bos taurus
K46NLNFTKPTPIQ1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K46NLNYNKPTPIQ1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K46NLNYSKPTPIQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K46KLGFKTPTPIQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K46ALKFKKPTPIQ1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
K46RLGYKNPTPIQ1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K46RLGWKNPSKIQ1Arabidopsis thaliana
K46AMGWKEPTRIQ1Oryza sativa subsp. japonica
K46RLGWMKPSKIQ1Caenorhabditis elegans
K46QLGWAKPTKIQ1Mus musculus
K74ETGSGKTGAFA4Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus
K74QTGSGKTAAFA4Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (
K74ETGSGKTAAFA2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K74QTGSGKTGAFA2Arabidopsis thaliana, Oryza sativa subsp. japonica
Q111FQISEQFEALG3Homo sapiens, Mus musculus, Bos taurus
Q111QQIKETFDSLG3Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q111FQIGQQFEALG2Oryza sativa subsp. japonica, Caenorhabditis elegans
Q111YQISEQFEAIG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q111AQIGQTFEALG1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
Q111AQIAQAFEALG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Q111IQIAEQFEALG1Arabidopsis thaliana
Q51KPTKIQIEAIP3Homo sapiens, Mus musculus, Bos taurus
Q51KPTPIQSKAIP3Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q51TPTPIQQEAIP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q51KPTPIQEQAIP1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
Q51NPTPIQEQSIP1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Q51NPSKIQAEALP1Arabidopsis thaliana
Q51EPTRIQAEAIP1Oryza sativa subsp. japonica
Q51KPSKIQQAALP1Caenorhabditis elegans
S72LAETGSGKTGA4Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus
S72LAQTGSGKTAA4Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (
S72IAETGSGKTAA2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S72LAQTGSGKTGA1Arabidopsis thaliana
S72LGQTGSGKTGA1Oryza sativa subsp. japonica
T70IGLAQTGSGKT5Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (
T70IGLAETGSGKT4Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus
T70IGIAETGSGKT2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T70IGLGQTGSGKT1Oryza sativa subsp. japonica
T75TGSGKTGAFAL4Homo sapiens, Oryza sativa subsp. japonica, Mus musculus, Bos taurus
T75TGSGKTAAFAI3Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T75TGSGKTAAFAL3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T75TGSGKTGAFAI2Arabidopsis thaliana, Caenorhabditis elegans
W44CDQLGWTKPTK2Homo sapiens, Bos taurus
W44CDNLNFTKPTP1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
W44CKNLNYNKPTP1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
W44CKNLNYSKPTP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W44CEKLGFKTPTP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W44CEALKFKKPTP1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
W44CERLGYKNPTP1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
W44CERLGWKNPSK1Arabidopsis thaliana
W44CDAMGWKEPTR1Oryza sativa subsp. japonica
W44CQRLGWMKPSK1Caenorhabditis elegans
W44CDQLGWAKPTK1Mus musculus


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