mutLBSgeneDB |
Gene summary for ADAR |
Gene summary |
Basic gene Info. | Gene symbol | ADAR |
Gene name | adenosine deaminase, RNA-specific | |
Synonyms | ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136 | |
Cytomap | UCSC genome browser: 1q21.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001025107.2, NM_001111.4,NM_001193495.1,NM_015840.3,NM_015841.3, | |
Description | 136 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 date | 20141219 | |
dbXrefs | MIM : 146920 | |
HGNC : HGNC | ||
Ensembl : ENSG00000160710 | ||
HPRD : 07528 | ||
Vega : OTTHUMG00000037261 | ||
Protein | UniProt: P55265 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ADAR | |
BioGPS: 103 | ||
Pathway | NCI Pathway Interaction Database: ADAR | |
KEGG: ADAR | ||
REACTOME: ADAR | ||
Pathway Commons: ADAR | ||
Context | iHOP: ADAR | |
ligand binding site mutation search in PubMed: ADAR | ||
UCL Cancer Institute: ADAR | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0006382 | adenosine to inosine editing | 15858013 | GO:0006606 | protein import into nucleus | 19124606 | GO:0006611 | protein export from nucleus | 19124606 | GO:0016553 | base conversion or substitution editing | 9020165 | GO:0031054 | pre-miRNA processing | 23622242 | GO:0035280 | miRNA loading onto RISC involved in gene silencing by miRNA | 23622242 | GO:0035455 | response to interferon-alpha | 16475990 | GO:0044387 | negative regulation of protein kinase activity by regulation of protein phosphorylation | 19651874 | GO:0045070 | positive regulation of viral genome replication | 19651874 |
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Ligand binding site mutations for ADAR |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | N173 | N173S | HNSC | 1 | Y177 | S178F | SKCM | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | N173 | N173S | -0.74981695 | Y177 | S178F | -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) |
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Phenotype information for ADAR |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0406775 | Dyschromatosis symmetrica hereditaria 1 | 35 | Biomarker, GeneticVariation |
umls:C0796126 | Aicardi-Goutieres syndrome | 6 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ADAR go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1qbj | A | N173 Y177 | NUC | Nucleic Acids | 1qbj | B | N173 Y177 | NUC | Nucleic Acids | 1qbj | C | N173 Y177 | NUC | Nucleic Acids | 2acj | A | N173 Y177 | NUC | Nucleic Acids | 2acj | B | N173 Y177 | NUC | Nucleic Acids | 2acj | C | N173 Y177 | NUC | Nucleic Acids | 2acj | D | N173 Y177 | NUC | Nucleic Acids | 2gxb | A | N173 Y177 | NUC | Nucleic Acids | 2gxb | B | N173 Y177 | NUC | Nucleic Acids | 3irq | D | N173 Y177 | NUC | Nucleic Acids | 3irq | C | N173 Y177 | NUC | Nucleic Acids | 3irq | B | N173 Y177 | NUC | Nucleic Acids | 3irq | A | N173 Y177 | NUC | Nucleic Acids | 3irr | A | N173 Y177 | NUC | Nucleic Acids | 3irr | B | N173 Y177 | NUC | Nucleic Acids | 3irr | C | N173 Y177 | NUC | Nucleic Acids | 3irr | D | N173 Y177 | NUC | Nucleic Acids | 2acj | B | Y177 |
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Conservation information for LBS of ADAR |
Multiple alignments for P55265 in multiple species |
LBS | AA sequence | # species | Species | G163 | AHDLSGKLGTP | 1 | Homo sapiens | G163 | AHVLARELRIP | 1 | Mus musculus | G163 | AYALARELRTP | 1 | Rattus norvegicus | G190 | LQKEAGTPPLW | 1 | Homo sapiens | G190 | LHRGRGKPPLW | 1 | Mus musculus | G190 | LHRGVGKPPLW | 1 | Rattus norvegicus | H159 | KATTAHDLSGK | 1 | Homo sapiens | H159 | KATTAHVLARE | 1 | Mus musculus | H159 | KATTAYALARE | 1 | Rattus norvegicus | K169 | KLGTPKKEINR | 1 | Homo sapiens | K169 | ELRIPKRDINR | 1 | Mus musculus | K169 | ELRTPKKDINR | 1 | Rattus norvegicus | K170 | LGTPKKEINRV | 1 | Homo sapiens | K170 | LRIPKRDINRI | 1 | Mus musculus | K170 | LRTPKKDINRI | 1 | Rattus norvegicus | K181 | LYSLAKKGKLQ | 1 | Homo sapiens | K181 | LYSLEKKGKLH | 1 | Mus musculus | K181 | LYSLERKGKLH | 1 | Rattus norvegicus | K187 | KGKLQKEAGTP | 1 | Homo sapiens | K187 | KGKLHRGRGKP | 1 | Mus musculus | K187 | KGKLHRGVGKP | 1 | Rattus norvegicus | N173 | PKKEINRVLYS | 1 | Homo sapiens | N173 | PKRDINRILYS | 1 | Mus musculus | N173 | PKKDINRILYS | 1 | Rattus norvegicus | P192 | KEAGTPPLWKI | 1 | Homo sapiens | P192 | RGRGKPPLWSL | 1 | Mus musculus | P192 | RGVGKPPLWSL | 1 | Rattus norvegicus | P193 | EAGTPPLWKIA | 1 | Homo sapiens | P193 | GRGKPPLWSLV | 1 | Mus musculus | P193 | GVGKPPLWSLV | 1 | Rattus norvegicus | R174 | KKEINRVLYSL | 1 | Homo sapiens | R174 | KRDINRILYSL | 1 | Mus musculus | R174 | KKDINRILYSL | 1 | Rattus norvegicus | T191 | QKEAGTPPLWK | 1 | Homo sapiens | T191 | HRGRGKPPLWS | 1 | Mus musculus | T191 | HRGVGKPPLWS | 1 | Rattus norvegicus | Y177 | INRVLYSLAKK | 1 | Homo sapiens | Y177 | INRILYSLEKK | 1 | Mus musculus | Y177 | INRILYSLERK | 1 | Rattus norvegicus |
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