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 GNAI3

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 (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
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)

* Left PPI network was created from samples with mutations in the LBS of GNAI3 and the right PPI network was created from samples without mutations in the LBS of GNAI3. 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 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	Homo sapiens, Mus musculus, Rattus norvegicus
A41	LLLLGAGESGK	3	Homo sapiens, Mus musculus, Rattus norvegicus
A83	IQSIIAIIRAM	3	Homo sapiens, Mus musculus, Rattus norvegicus
C325	YTHFTCATDTK	3	Homo sapiens, Mus musculus, Rattus norvegicus
D272	FLNKKDLFEEK	3	Homo sapiens, Mus musculus, Rattus norvegicus
E207	GGQRSERKKWI	3	Homo sapiens, Mus musculus, Rattus norvegicus
E238	VLAEDEEMNRM	3	Homo sapiens, Mus musculus, Rattus norvegicus
E239	LAEDEEMNRMH	3	Homo sapiens, Mus musculus, Rattus norvegicus
E245	MNRMHESMKLF	3	Homo sapiens, Mus musculus, Rattus norvegicus
E43	LLGAGESGKST	3	Homo sapiens, Mus musculus, Rattus norvegicus
F215	KWIHCFEGVTA	3	Homo sapiens, Mus musculus, Rattus norvegicus
F259	CNNKWFTDTSI	2	Mus musculus, Rattus norvegicus
F259	CNNKWFTETSI	1	Homo sapiens
G202	KMFDVGGQRSE	3	Homo sapiens, Mus musculus, Rattus norvegicus
G203	MFDVGGQRSER	3	Homo sapiens, Mus musculus, Rattus norvegicus
G40	KLLLLGAGESG	3	Homo sapiens, Mus musculus, Rattus norvegicus
G42	LLLGAGESGKS	3	Homo sapiens, Mus musculus, Rattus norvegicus
G45	GAGESGKSTIV	3	Homo sapiens, Mus musculus, Rattus norvegicus
I212	ERKKWIHCFEG	3	Homo sapiens, Mus musculus, Rattus norvegicus
I253	KLFDSICNNKW	3	Homo sapiens, Mus musculus, Rattus norvegicus
K180	LRTRVKTTGIV	3	Homo sapiens, Mus musculus, Rattus norvegicus
K270	ILFLNKKDLFE	3	Homo sapiens, Mus musculus, Rattus norvegicus
K46	AGESGKSTIVK	3	Homo sapiens, Mus musculus, Rattus norvegicus
L148	SREYQLNDSAS	3	Homo sapiens, Mus musculus, Rattus norvegicus
L249	HESMKLFDSIC	3	Homo sapiens, Mus musculus, Rattus norvegicus
L273	LNKKDLFEEKI	3	Homo sapiens, Mus musculus, Rattus norvegicus
L39	VKLLLLGAGES	3	Homo sapiens, Mus musculus, Rattus norvegicus
N149	REYQLNDSASY	3	Homo sapiens, Mus musculus, Rattus norvegicus
N256	DSICNNKWFTD	2	Mus musculus, Rattus norvegicus
N256	DSICNNKWFTE	1	Homo sapiens
N269	IILFLNKKDLF	3	Homo sapiens, Mus musculus, Rattus norvegicus
N76	VVVYSNTIQSI	3	Homo sapiens, Mus musculus, Rattus norvegicus
Q147	RSREYQLNDSA	3	Homo sapiens, Mus musculus, Rattus norvegicus
Q204	FDVGGQRSERK	3	Homo sapiens, Mus musculus, Rattus norvegicus
Q79	YSNTIQSIIAI	3	Homo sapiens, Mus musculus, Rattus norvegicus
R176	QQDVLRTRVKT	3	Homo sapiens, Mus musculus, Rattus norvegicus
R178	DVLRTRVKTTG	3	Homo sapiens, Mus musculus, Rattus norvegicus
R205	DVGGQRSERKK	3	Homo sapiens, Mus musculus, Rattus norvegicus
R208	GQRSERKKWIH	3	Homo sapiens, Mus musculus, Rattus norvegicus
R242	DEEMNRMHESM	3	Homo sapiens, Mus musculus, Rattus norvegicus
S151	YQLNDSASYYL	3	Homo sapiens, Mus musculus, Rattus norvegicus
S206	VGGQRSERKKW	3	Homo sapiens, Mus musculus, Rattus norvegicus
S252	MKLFDSICNNK	3	Homo sapiens, Mus musculus, Rattus norvegicus
S44	LGAGESGKSTI	3	Homo sapiens, Mus musculus, Rattus norvegicus
S47	GESGKSTIVKQ	3	Homo sapiens, Mus musculus, Rattus norvegicus
S75	KVVVYSNTIQS	3	Homo sapiens, Mus musculus, Rattus norvegicus
T181	RTRVKTTGIVE	3	Homo sapiens, Mus musculus, Rattus norvegicus
T327	HFTCATDTKNV	3	Homo sapiens, Mus musculus, Rattus norvegicus
T48	ESGKSTIVKQM	3	Homo sapiens, Mus musculus, Rattus norvegicus
V179	VLRTRVKTTGI	3	Homo sapiens, Mus musculus, Rattus norvegicus
V201	FKMFDVGGQRS	3	Homo sapiens, Mus musculus, Rattus norvegicus
V72	KQYKVVVYSNT	3	Homo sapiens, Mus musculus, Rattus norvegicus
W211	SERKKWIHCFE	3	Homo sapiens, Mus musculus, Rattus norvegicus
W258	ICNNKWFTDTS	2	Mus musculus, Rattus norvegicus
W258	ICNNKWFTETS	1	Homo sapiens
Y69	DECKQYKVVVY	3	Homo sapiens, Mus musculus, Rattus norvegicus