mutLBSgeneDB
mutated Ligand Binding Site gene DataBase
| 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
| Basic gene Info. | Gene symbol | GNAI3 |
| Gene name | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 | |
| Synonyms | 87U6|ARCND1 | |
| Cytomap | UCSC genome browser: 1p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006496.3, | |
| Description | g(i) alpha-3guanine nucleotide-binding protein G(k) subunit alpha | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 139370 | |
| HGNC : HGNC | ||
| HPRD : 00765 | ||
| Protein | UniProt: P08754 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GNAI3 | |
| BioGPS: 2773 | ||
| Pathway | NCI Pathway Interaction Database: GNAI3 | |
| KEGG: GNAI3 | ||
| REACTOME: GNAI3 | ||
| Pathway Commons: GNAI3 | ||
| Context | iHOP: GNAI3 | |
| ligand binding site mutation search in PubMed: GNAI3 | ||
| UCL Cancer Institute: GNAI3 | ||
| 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:0051301 | cell division | 17635935 |
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Ligand binding site mutations for GNAI3
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
| LBS | AAchange of nsSNV | Cancer type | # samples | E238 | E238K | BLCA | 1 | Q147 | Y146F | COAD | 1 | R242 | R242Q | HNSC | 1 | F259 | T260A | STAD | 1 | T327 | D328G | UCEC | 1 | I212 | H213N | UCEC | 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 GNAI3
| Relative protein structure stability change (ÎÎE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ÎÎE<0: mutation decreases stability, ÎÎE>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 | R242 | R242Q | -1.2363725 | I212 | H213N | -1.0972841 | F259 | T260A | -1.020324 | T327 | D328G | -0.78082898 | Q147 | Y146F | -0.57223568 | E238 | E238K | -0.55001523 |
(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 GNAI3 from PDB
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Differential gene expression and gene-gene network for GNAI3
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 GNAI3
Gene level disease information (DisGeNet)
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1865295 | Auriculo-condylar syndrome | 3 | Biomarker, GeneticVariation |
| umls:C0002622 | Amnesia | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation)
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GNAI3
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 GNAI3 go to BioLip
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLU,ASP,PHE,PHE,SER,LEU,ILE,LEU,ARG,SER,GLN,ALA,LYS,ARG,MET,ASP,GLU,GLN,ARG,VAL,LEU,LEU) | 4g5o | B | E238 F259 | III | Peptide ligand (GLU,ASP,PHE,PHE,SER,LEU,ILE,LEU,ARG,SER,GLN,ALA,LYS,ARG,MET,ASP,GLU,GLN,ARG,VAL,LEU,LEU) | 4g5o | A | F259 | III | Peptide ligand (GLU,ASP,PHE,PHE,SER,LEU,ILE,LEU,ARG,SER,GLN,ALA,LYS,ARG,MET,ASP,GLU,GLN,ARG,VAL,LEU,LEU) | 4g5o | C | I212 F259 | III | Peptide ligand (ASP,PHE,PHE,SER,LEU,ILE,LEU,ARG,SER,GLN,ALA,LYS,ARG,MET,ASP,GLU,GLN,ARG,VAL,LEU,LEU) | 4g5r | D | Q147 | III | Peptide ligand (ASP,PHE,PHE,ASP,ILE,LEU,VAL,LYS,CYS,GLN,GLY,SER,ARG,LEU,ASP,ASP,GLN,ARG,CYS,ALA,PRO,PRO) | 4g5s | A | Q147 | III | Peptide ligand (ASP,PHE,PHE,ASP,ILE,LEU,VAL,LYS,CYS,GLN,GLY,SER,ARG,LEU,ASP,ASP,GLN,ARG,CYS,ALA,PRO,PRO) | 4g5s | B | Q147 | III | Peptide ligand (SER,ARG,LEU,ASP,ASP,GLN,ARG,CYS,ALA,PRO,PRO) | 4g5s | C | Q147 | III | Peptide ligand (ARG,LEU,ASP,ASP,GLN,ARG,CYS,ALA,PRO,PRO) | 4g5s | D | Q147 | III | Peptide ligand (ASP,PHE,PHE,SER,LEU,ILE,LEU,ARG,SER,GLN,ALA,LYS,ARG,MET,ASP,GLU,GLN,ARG,VAL,LEU,LEU,GLN) | 4g5r | B | Q147 F259 | III | Peptide ligand (ASP,PHE,PHE,SER,LEU,ILE,LEU,ARG,SER,GLN,ALA,LYS,ARG,MET,ASP,GLU,GLN,ARG,VAL,LEU,LEU) | 4g5r | A | Q147 R242 | III | Peptide ligand (ASP,PHE,PHE,SER,LEU,ILE,LEU,ARG,SER,GLN,ALA,LYS,ARG,MET,ASP,GLU,GLN,ARG,VAL,LEU,LEU,GLN) | 4g5r | C | Q147 R242 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2ihb | A | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2ode | A | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2ode | C | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2v4z | A | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5o | A | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5o | B | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5o | C | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5o | D | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5r | A | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5r | B | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5r | C | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5r | D | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5s | A | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5s | B | T327 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4g5s | C | T327 |
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Conservation information for LBS of GNAI3
Multiple alignments for P08754 in multiple species
| LBS | AA sequence | # species | Species | A326 | THFTCATDTKN | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | A41 | LLLLGAGESGK | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | A83 | IQSIIAIIRAM | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | C325 | YTHFTCATDTK | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | D272 | FLNKKDLFEEK | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | E207 | GGQRSERKKWI | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | E238 | VLAEDEEMNRM | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | E239 | LAEDEEMNRMH | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | E245 | MNRMHESMKLF | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | E43 | LLGAGESGKST | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | F215 | KWIHCFEGVTA | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | F259 | CNNKWFTDTSI | 2 | Mus musculus, Rattus norvegicus | F259 | CNNKWFTETSI | 1 | hom*o sapiens | G202 | KMFDVGGQRSE | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | G203 | MFDVGGQRSER | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | G40 | KLLLLGAGESG | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | G42 | LLLGAGESGKS | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | G45 | GAGESGKSTIV | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | I212 | ERKKWIHCFEG | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | I253 | KLFDSICNNKW | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | K180 | LRTRVKTTGIV | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | K270 | ILFLNKKDLFE | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | K46 | AGESGKSTIVK | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | L148 | SREYQLNDSAS | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | L249 | HESMKLFDSIC | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | L273 | LNKKDLFEEKI | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | L39 | VKLLLLGAGES | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | N149 | REYQLNDSASY | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | N256 | DSICNNKWFTD | 2 | Mus musculus, Rattus norvegicus | N256 | DSICNNKWFTE | 1 | hom*o sapiens | N269 | IILFLNKKDLF | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | N76 | VVVYSNTIQSI | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | Q147 | RSREYQLNDSA | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | Q204 | FDVGGQRSERK | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | Q79 | YSNTIQSIIAI | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | R176 | QQDVLRTRVKT | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | R178 | DVLRTRVKTTG | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | R205 | DVGGQRSERKK | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | R208 | GQRSERKKWIH | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | R242 | DEEMNRMHESM | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | S151 | YQLNDSASYYL | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | S206 | VGGQRSERKKW | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | S252 | MKLFDSICNNK | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | S44 | LGAGESGKSTI | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | S47 | GESGKSTIVKQ | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | S75 | KVVVYSNTIQS | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | T181 | RTRVKTTGIVE | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | T327 | HFTCATDTKNV | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | T48 | ESGKSTIVKQM | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | V179 | VLRTRVKTTGI | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | V201 | FKMFDVGGQRS | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | V72 | KQYKVVVYSNT | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | W211 | SERKKWIHCFE | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus | W258 | ICNNKWFTDTS | 2 | Mus musculus, Rattus norvegicus | W258 | ICNNKWFTETS | 1 | hom*o sapiens | Y69 | DECKQYKVVVY | 3 | hom*o sapiens, Mus musculus, Rattus norvegicus |
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