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 ADAR
Gene summary
Basic gene Info.Gene symbolADAR
Gene nameadenosine deaminase, RNA-specific
SynonymsADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136
CytomapUCSC genome browser: 1q21.3
Type of geneprotein-coding
RefGenesNM_001025107.2,
NM_001111.4,NM_001193495.1,NM_015840.3,NM_015841.3,
Description136 kDa double-stranded RNA-binding proteinRNA-specific adenosine deaminaseadenosine deaminase acting on RNA 1-Adouble-stranded RNA-specific adenosine deaminasedsRNA adenosine deaminaseinterferon-induced protein 4interferon-inducible protein 4
Modification date20141219
dbXrefs MIM : 146920
HGNC : HGNC
Ensembl : ENSG00000160710
HPRD : 07528
Vega : OTTHUMG00000037261
ProteinUniProt: P55265
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ADAR
BioGPS: 103
PathwayNCI Pathway Interaction Database: ADAR
KEGG: ADAR
REACTOME: ADAR
Pathway Commons: ADAR
ContextiHOP: ADAR
ligand binding site mutation search in PubMed: ADAR
UCL Cancer Institute: ADAR
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:0006382adenosine to inosine editing15858013
GO:0006606protein import into nucleus19124606
GO:0006611protein export from nucleus19124606
GO:0016553base conversion or substitution editing9020165
GO:0031054pre-miRNA processing23622242
GO:0035280miRNA loading onto RISC involved in gene silencing by miRNA23622242
GO:0035455response to interferon-alpha16475990
GO:0044387negative regulation of protein kinase activity by regulation of protein phosphorylation19651874
GO:0045070positive regulation of viral genome replication19651874


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Ligand binding site mutations for ADAR

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
N173N173SHNSC1
Y177S178FSKCM1
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 ADAR
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
N173N173S-0.74981695
Y177S178F-0.44056908
(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 ADAR from PDB

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Differential gene expression and gene-gene network for ADAR
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 ADAR and the right PPI network was created from samples without mutations in the LBS of ADAR. 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 ADAR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0406775Dyschromatosis symmetrica hereditaria 135Biomarker, GeneticVariation
umls:C0796126Aicardi-Goutieres syndrome6Biomarker

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

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Pharmacological information for ADAR
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 ADAR go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids1qbjAN173 Y177
NUCNucleic Acids1qbjBN173 Y177
NUCNucleic Acids1qbjCN173 Y177
NUCNucleic Acids2acjAN173 Y177
NUCNucleic Acids2acjBN173 Y177
NUCNucleic Acids2acjCN173 Y177
NUCNucleic Acids2acjDN173 Y177
NUCNucleic Acids2gxbAN173 Y177
NUCNucleic Acids2gxbBN173 Y177
NUCNucleic Acids3irqDN173 Y177
NUCNucleic Acids3irqCN173 Y177
NUCNucleic Acids3irqBN173 Y177
NUCNucleic Acids3irqAN173 Y177
NUCNucleic Acids3irrAN173 Y177
NUCNucleic Acids3irrBN173 Y177
NUCNucleic Acids3irrCN173 Y177
NUCNucleic Acids3irrDN173 Y177
NUCNucleic Acids2acjBY177


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Conservation information for LBS of ADAR
Multiple alignments for P55265 in multiple species
LBSAA sequence# speciesSpecies
G163AHDLSGKLGTP1Homo sapiens
G163AHVLARELRIP1Mus musculus
G163AYALARELRTP1Rattus norvegicus
G190LQKEAGTPPLW1Homo sapiens
G190LHRGRGKPPLW1Mus musculus
G190LHRGVGKPPLW1Rattus norvegicus
H159KATTAHDLSGK1Homo sapiens
H159KATTAHVLARE1Mus musculus
H159KATTAYALARE1Rattus norvegicus
K169KLGTPKKEINR1Homo sapiens
K169ELRIPKRDINR1Mus musculus
K169ELRTPKKDINR1Rattus norvegicus
K170LGTPKKEINRV1Homo sapiens
K170LRIPKRDINRI1Mus musculus
K170LRTPKKDINRI1Rattus norvegicus
K181LYSLAKKGKLQ1Homo sapiens
K181LYSLEKKGKLH1Mus musculus
K181LYSLERKGKLH1Rattus norvegicus
K187KGKLQKEAGTP1Homo sapiens
K187KGKLHRGRGKP1Mus musculus
K187KGKLHRGVGKP1Rattus norvegicus
N173PKKEINRVLYS1Homo sapiens
N173PKRDINRILYS1Mus musculus
N173PKKDINRILYS1Rattus norvegicus
P192KEAGTPPLWKI1Homo sapiens
P192RGRGKPPLWSL1Mus musculus
P192RGVGKPPLWSL1Rattus norvegicus
P193EAGTPPLWKIA1Homo sapiens
P193GRGKPPLWSLV1Mus musculus
P193GVGKPPLWSLV1Rattus norvegicus
R174KKEINRVLYSL1Homo sapiens
R174KRDINRILYSL1Mus musculus
R174KKDINRILYSL1Rattus norvegicus
T191QKEAGTPPLWK1Homo sapiens
T191HRGRGKPPLWS1Mus musculus
T191HRGVGKPPLWS1Rattus norvegicus
Y177INRVLYSLAKK1Homo sapiens
Y177INRILYSLEKK1Mus musculus
Y177INRILYSLERK1Rattus norvegicus


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