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 DDX5
Gene summary
Basic gene Info.Gene symbolDDX5
Gene nameDEAD (Asp-Glu-Ala-Asp) box helicase 5
SynonymsG17P1|HLR1|HUMP68|p68
CytomapUCSC genome browser: 17q21
Type of geneprotein-coding
RefGenesNM_004396.3,
DescriptionATP-dependent RNA helicase DDX5DEAD (Asp-Glu-Ala-Asp) box polypeptide 5DEAD box protein 5DEAD box-5DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)RNA helicase p68probable ATP-dependent RNA helicase DDX5
Modification date20141207
dbXrefs MIM : 180630
HGNC : HGNC
Ensembl : ENSG00000108654
HPRD : 01615
Vega : OTTHUMG00000178936
ProteinUniProt: P17844
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DDX5
BioGPS: 1655
PathwayNCI Pathway Interaction Database: DDX5
KEGG: DDX5
REACTOME: DDX5
Pathway Commons: DDX5
ContextiHOP: DDX5
ligand binding site mutation search in PubMed: DDX5
UCL Cancer Institute: DDX5
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:0000122negative regulation of transcription from RNA polymerase II promoter15298701
GO:0000381regulation of alternative mRNA splicing, via spliceosome21343338
GO:0033148positive regulation of intracellular estrogen receptor signaling pathway-
GO:0045944positive regulation of transcription from RNA polymerase II promoter-


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Ligand binding site mutations for DDX5
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
Q121Q123HLUAD1
F96F96LLUSC1
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 DDX5
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
F96F96L-0.81832959
Q121Q123H-0.4989292
(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 DDX5 from PDB

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Differential gene expression and gene-gene network for DDX5
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 DDX5 and the right PPI network was created from samples without mutations in the LBS of DDX5. 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 DDX5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0014175Endometriosis1Biomarker

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

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Pharmacological information for DDX5
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 DDX5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP3fe2AF96 Q121
ADPADP3fe2BF96 Q121


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Conservation information for LBS of DDX5
Multiple alignments for P17844 in multiple species
LBSAA sequence# speciesSpecies
E116RQNFTEPTAIQ2Homo sapiens, Pan troglodytes
E116KLGFTEPTPIQ1Arabidopsis thaliana
E116KAGFTEPTPIQ1Arabidopsis thaliana
E116AEGFDKPTGIQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E116QEGFAKPTGIQ1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E116EEGFEKPTAIQ1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E116QLGFEAPTPIQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E116AQGFPAPTAIQ1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F114IARQNFTEPTA2Homo sapiens, Pan troglodytes
F114IAKLGFTEPTP1Arabidopsis thaliana
F114VKKAGFTEPTP1Arabidopsis thaliana
F114VKAEGFDKPTG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F114VKQEGFAKPTG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F114VKEEGFEKPTA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F114VKQLGFEAPTP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F114VKAQGFPAPTA1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F96KPVLNFYEANF2Homo sapiens, Pan troglodytes
F96KPMKMFQDANF1Arabidopsis thaliana
F96KPVKSFRDVGF1Arabidopsis thaliana
F96KPITTFDEAGF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F96KPIRSFDEAGF1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F96KPIRTFDEAGF1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F96KPVTTFEEAGF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F96KPVETFDEAGF1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
G141GIAETGSGKTL3Arabidopsis thaliana, Arabidopsis thaliana, Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
G141GVAQTGSGKTL2Homo sapiens, Pan troglodytes
G141GVAATGSGKTL2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G141GIAATGSGKTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G141GISATGSGKTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G143AATGSGKTLSY3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G143AQTGSGKTLSY2Homo sapiens, Pan troglodytes
G143AETGSGKTLAY1Arabidopsis thaliana
G143AETGSGKTLSY1Arabidopsis thaliana
G143SATGSGKTLSY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G143AETGSGKTLTY1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
K144ATGSGKTLSYC4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Schizosaccharomyces pombe (
K144QTGSGKTLSYL2Homo sapiens, Pan troglodytes
K144ETGSGKTLAYL1Arabidopsis thaliana
K144ETGSGKTLSYL1Arabidopsis thaliana
K144ETGSGKTLTYC1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
Q121EPTAIQAQGWP2Homo sapiens, Pan troglodytes
Q121KPTGIQCQGWP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Q121EPTPIQAQGWP1Arabidopsis thaliana
Q121EPTPIQSQGWP1Arabidopsis thaliana
Q121KPTAIQCQGWP1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q121APTPIQQQAWP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q121APTAIQSQGWP1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
S142VAQTGSGKTLS2Homo sapiens, Pan troglodytes
S142VAATGSGKTLS2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S142IAETGSGKTLA1Arabidopsis thaliana
S142IAETGSGKTLS1Arabidopsis thaliana
S142IAATGSGKTLS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S142ISATGSGKTLS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S142IAETGSGKTLT1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T118NFTEPTAIQAQ2Homo sapiens, Pan troglodytes
T118GFTEPTPIQAQ1Arabidopsis thaliana
T118GFTEPTPIQSQ1Arabidopsis thaliana
T118GFDKPTGIQCQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T118GFAKPTGIQCQ1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T118GFEKPTAIQCQ1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T118GFEAPTPIQQQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T118GFPAPTAIQSQ1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T140VGVAQTGSGKT2Homo sapiens, Pan troglodytes
T140IGIAETGSGKT2Arabidopsis thaliana, Arabidopsis thaliana
T140IGVAATGSGKT2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T140VGIAATGSGKT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T140VGISATGSGKT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T140VGIAETGSGKT1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T145TGSGKTLSYCL4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Schizosaccharomyces pombe (
T145TGSGKTLSYLL3Homo sapiens, Pan troglodytes, Arabidopsis thaliana
T145TGSGKTLAYLL1Arabidopsis thaliana
T145TGSGKTLTYCL1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)


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