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 DHX9
Gene summary
Basic gene Info.Gene symbolDHX9
Gene nameDEAH (Asp-Glu-Ala-His) box helicase 9
SynonymsDDX9|LKP|NDH2|NDHII|RHA
CytomapUCSC genome browser: 1q25
Type of geneprotein-coding
RefGenesNM_001357.4,
NR_033302.1,NM_030588.1,
DescriptionATP-dependent RNA helicase ADEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9DEAH (Asp-Glu-Ala-His) box polypeptide 9DEAH box protein 9RNA helicase Aleukophysinnuclear DNA helicase II
Modification date20141222
dbXrefs MIM : 603115
HGNC : HGNC
Ensembl : ENSG00000135829
HPRD : 04386
Vega : OTTHUMG00000035337
ProteinUniProt: Q08211
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DHX9
BioGPS: 1660
PathwayNCI Pathway Interaction Database: DHX9
KEGG: DHX9
REACTOME: DHX9
Pathway Commons: DHX9
ContextiHOP: DHX9
ligand binding site mutation search in PubMed: DHX9
UCL Cancer Institute: DHX9
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:0001649osteoblast differentiation16210410


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Ligand binding site mutations for DHX9
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
K54D56HOV1
A183R184CSKCM1
D511I509SUCEC1
K236L237MUCEC1
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 DHX9
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
D511I509S-1.1534479
A183R184C-1.076715
K236L237M-0.89017612
K54D56H-0.7894905
(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 DHX9 from PDB

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Differential gene expression and gene-gene network for DHX9
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 DHX9 and the right PPI network was created from samples without mutations in the LBS of DHX9. 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 DHX9
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 DHX9
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 DHX9 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3vyxAA183 K236
MNMANGANESE(2+)3llmAD511
MNMANGANESE(2+)3llmBD511
NUCNucleic Acids3vyyAK54
NUCNucleic Acids3vyyBK54


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Conservation information for LBS of DHX9
Multiple alignments for Q08211 in multiple species
LBSAA sequence# speciesSpecies
A183LENAKARLNQY3Homo sapiens, Mus musculus, Bos taurus
A183MENSKKALNEF1Caenorhabditis elegans
A183IENAKERLNIY1Drosophila melanogaster
C415RGATGCGKTTQ3Homo sapiens, Mus musculus, Bos taurus
C415KGETGCGKSTQ1Caenorhabditis elegans
C415RGNTGCGKTTQ1Drosophila melanogaster
D511SHVIVDEIHER3Homo sapiens, Mus musculus, Bos taurus
D511SHVIIDEIHER1Caenorhabditis elegans
D511SHIIVDEIHER1Drosophila melanogaster
E179GNWTLENAKAR3Homo sapiens, Mus musculus, Bos taurus
E179GGWTMENSKKA1Caenorhabditis elegans
E179GNWTIENAKER1Drosophila melanogaster
E512HVIVDEIHERD3Homo sapiens, Mus musculus, Bos taurus
E512HVIIDEIHERD1Caenorhabditis elegans
E512HIIVDEIHERD1Drosophila melanogaster
F34KNRQKFMCEVR2Mus musculus, Bos taurus
F34KNRQKFMCEVQ1Homo sapiens
F34SGRQRFKCELR1Caenorhabditis elegans
F34KNRQRFLCEVR1Drosophila melanogaster
G414IRGATGCGKTT3Homo sapiens, Mus musculus, Bos taurus
G414IKGETGCGKST1Caenorhabditis elegans
G414IRGNTGCGKTT1Drosophila melanogaster
G416GATGCGKTTQV3Homo sapiens, Mus musculus, Bos taurus
G416GETGCGKSTQV1Caenorhabditis elegans
G416GNTGCGKTTQI1Drosophila melanogaster
K182TLENAKARLNQ3Homo sapiens, Mus musculus, Bos taurus
K182TMENSKKALNE1Caenorhabditis elegans
K182TIENAKERLNI1Drosophila melanogaster
K191NQYFQKEKI-Q3Homo sapiens, Mus musculus, Bos taurus
K191NEFLQKMRLPQ1Caenorhabditis elegans
K191NIYKQTNNI-R1Drosophila melanogaster
K236HGSNKKLAAQS3Homo sapiens, Mus musculus, Bos taurus
K236TGSNKKVSEAA1Caenorhabditis elegans
K236SGSNKKSASKS1Drosophila melanogaster
K29RAVGNKNRQKF3Homo sapiens, Mus musculus, Bos taurus
K29KSETRSGRQRF1Caenorhabditis elegans
K29RQTGPKNRQRF1Drosophila melanogaster
K417ATGCGKTTQVP3Homo sapiens, Mus musculus, Bos taurus
K417ETGCGKSTQVA1Caenorhabditis elegans
K417NTGCGKTTQIA1Drosophila melanogaster
K54GNSTNKKDAQS3Homo sapiens, Mus musculus, Bos taurus
K54GNSTNKKDAAT1Caenorhabditis elegans
K54GNSTNKKDAEK1Drosophila melanogaster
L388QERELLPVKKF3Homo sapiens, Mus musculus, Bos taurus
L388AQRGELPVAQY1Caenorhabditis elegans
L388EFREKLPIAAM1Drosophila melanogaster
N186AKARLNQYFQK3Homo sapiens, Mus musculus, Bos taurus
N186SKKALNEFLQK1Caenorhabditis elegans
N186AKERLNIYKQT1Drosophila melanogaster
N30AVGNKNRQKFM3Homo sapiens, Mus musculus, Bos taurus
N30SETRSGRQRFK1Caenorhabditis elegans
N30QTGPKNRQRFL1Drosophila melanogaster
N53MGNSTNKKDAQ3Homo sapiens, Mus musculus, Bos taurus
N53FGNSTNKKDAA1Caenorhabditis elegans
N53VGNSTNKKDAE1Drosophila melanogaster
Q187KARLNQYFQKE3Homo sapiens, Mus musculus, Bos taurus
Q187KKALNEFLQKM1Caenorhabditis elegans
Q187KERLNIYKQTN1Drosophila melanogaster
Q190LNQYFQKEKI-3Homo sapiens, Mus musculus, Bos taurus
Q190LNEFLQKMRLP1Caenorhabditis elegans
Q190LNIYKQTNNI-1Drosophila melanogaster
Q240KKLAAQSCALS3Homo sapiens, Mus musculus, Bos taurus
Q240KKVSEAACAMN1Caenorhabditis elegans
Q240KKSASKSCALS1Drosophila melanogaster
R456VSVAERVAFER1Homo sapiens
R456ISLAERVANER1Caenorhabditis elegans
R456ISVAERVARER1Drosophila melanogaster
R456VAVAERVAYER1Mus musculus
R456VSVAERVAYER1Bos taurus
T413IIRGATGCGKT3Homo sapiens, Mus musculus, Bos taurus
T413LIKGETGCGKS1Caenorhabditis elegans
T413IIRGNTGCGKT1Drosophila melanogaster
T418TGCGKTTQVPQ3Homo sapiens, Mus musculus, Bos taurus
T418TGCGKSTQVAQ1Caenorhabditis elegans
T418TGCGKTTQIAQ1Drosophila melanogaster
T419GCGKTTQVPQF2Homo sapiens, Bos taurus
T419GCGKSTQVAQF1Caenorhabditis elegans
T419GCGKTTQIAQY1Drosophila melanogaster
T419GCGKTTQVPQY1Mus musculus
T52GMGNSTNKKDA3Homo sapiens, Mus musculus, Bos taurus
T52AFGNSTNKKDA1Caenorhabditis elegans
T52GVGNSTNKKDA1Drosophila melanogaster


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