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 AGO1

Gene summary

Basic gene Info.	Gene symbol	AGO1
	Gene name	argonaute RISC catalytic component 1
	Synonyms	EIF2C\|EIF2C1\|GERP95\|Q99
	Cytomap	UCSC genome browser: 1p34.3
	Type of gene	protein-coding
	RefGenes	NM_012199.2,
	Description	Golgi Endoplasmic Reticulum protein 95 kDaargonaute 1argonaute1eIF-2C 1eIF2C 1eukaryotic translation initiation factor 2C, 1hAgo1protein argonaute-1putative RNA-binding protein Q99
	Modification date	20141207
dbXrefs	MIM : 606228
	HGNC : HGNC
	HPRD : 06942
Protein	UniProt: Q9UL18 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_AGO1
	BioGPS: 26523
Pathway	NCI Pathway Interaction Database: AGO1
	KEGG: AGO1
	REACTOME: AGO1
	Pathway Commons: AGO1
Context	iHOP: AGO1
	ligand binding site mutation search in PubMed: AGO1
	UCL Cancer Institute: AGO1
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:0000956	nuclear-transcribed mRNA catabolic process	18771919
GO:0035278	negative regulation of translation involved in gene silencing by miRNA	18771919

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Ligand binding site mutations for AGO1

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
R278	R278C	COAD	2
S218	D216G	COAD	1
R790	R790L	HNSC	1
K564	L563F	HNSC	1
T524	T524P	KIRC	1
Y527	A528S	LUAD	1
R712	R712S	LUAD	1
T359	S360L	SKCM	1
L337	P338S	SKCM	1
R712	R712H	STAD	1
R759	R759Q	STAD	1
H751	S750I	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 AGO1

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
K564	L563F	-1.7326704
R278	R278C	-1.2668831
R712	R712H	-1.2256804
L337	P338S	-1.1988489
R712	R712S	-1.1837457
S218	D216G	-0.99866047
R759	R759Q	-0.79620053
Y527	A528S	-0.69347478
T524	T524P	-0.65421951
R790	R790L	-0.59662758
H751	S750I	-0.48155841
T359	S360L	-0.088127121

(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 AGO1 from PDB

PDB ID	PDB title	PDB structure
4KXT	Structure of human ARGONAUTE1 in complex with guide RNA

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Differential gene expression and gene-gene network for AGO1

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 AGO1 and the right PPI network was created from samples without mutations in the LBS of AGO1. 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 AGO1

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for AGO1

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 AGO1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
NUC		Nucleic Acids	1si2	A	R278 L337
NUC		Nucleic Acids	1si3	A	R278 L337
NUC		Nucleic Acids	4kxt	A	S218 L337 T359 T524 Y527 K564 R712 H751 R759 R790
NUC		Nucleic Acids	4kre	A	S218 L337 T359 Y527 K564 R712 H751 R759 R790
NUC		Nucleic Acids	4krf	A	S218 L337 T524 Y527 K564 R712 H751 R759 R790

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Conservation information for LBS of AGO1

Multiple alignments for Q9UL18 in multiple species

LBS

AA sequence

# species

Species