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 PPP2R3A

Gene summary

Basic gene Info.	Gene symbol	PPP2R3A
	Gene name	protein phosphatase 2, regulatory subunit B'', alpha
	Synonyms	PPP2R3\|PR130\|PR72
	Cytomap	UCSC genome browser: 3q22.1
	Type of gene	protein-coding
	RefGenes	NM_001190447.1, NM_002718.4,NM_181897.2,
	Description	PP2A subunit B isoforms B72/B130PP2A, subunit B, R3 isoformprotein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoformserine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit Bserine/threo
	Modification date	20141207
dbXrefs	MIM : 604944
	HGNC : HGNC
	Ensembl : ENSG00000073711
	HPRD : 09225
	Vega : OTTHUMG00000159766
Protein	UniProt: Q06190 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_PPP2R3A
	BioGPS: 5523
Pathway	NCI Pathway Interaction Database: PPP2R3A
	KEGG: PPP2R3A
	REACTOME: PPP2R3A
	Pathway Commons: PPP2R3A
Context	iHOP: PPP2R3A
	ligand binding site mutation search in PubMed: PPP2R3A
	UCL Cancer Institute: PPP2R3A
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:0090263	positive regulation of canonical Wnt signaling pathway	16567647

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Ligand binding site mutations for PPP2R3A

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E996	E996V	KIRC	1
D922	S924F	PRAD	1
D913	D913N	STAD	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 PPP2R3A

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
D913	D913N	-0.98954152
E996	E996V	-0.56793463
D922	S924F	-0.4374162

(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 PPP2R3A from PDB

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Differential gene expression and gene-gene network for PPP2R3A

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 PPP2R3A and the right PPI network was created from samples without mutations in the LBS of PPP2R3A. 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 PPP2R3A

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 PPP2R3A

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 PPP2R3A go to BioLip

Ligand ID

Ligand short name

Ligand long name

PDB ID

PDB name

mutLBS

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Conservation information for LBS of PPP2R3A

Multiple alignments for Q06190 in multiple species

LBS	AA sequence	# species	Species
D911	KFWELDTDHDF	3	Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D911	KFWELDTDHDL	1	Homo sapiens
D913	WELDTDHDFLI	3	Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D913	WELDTDHDLYI	1	Homo sapiens
D915	LDTDHDFLIDK	3	Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D915	LDTDHDLYISQ	1	Homo sapiens
D922	LIDKENLMRYG	2	Arabidopsis thaliana, Arabidopsis thaliana
D922	YISQADLSRYN	1	Homo sapiens
D922	LIDKENLIRYS	1	Arabidopsis thaliana
D985	WFKCIDLDANG	3	Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D985	WFRCMDVDGDG	1	Homo sapiens
D987	KCIDLDANGII	2	Arabidopsis thaliana, Arabidopsis thaliana
D987	RCMDVDGDGVL	1	Homo sapiens
D987	KCIDLDANGVL	1	Arabidopsis thaliana
D989	IDLDANGIITR	2	Arabidopsis thaliana, Arabidopsis thaliana
D989	MDVDGDGVLSM	1	Homo sapiens
D989	IDLDANGVLTR	1	Arabidopsis thaliana
E996	IITRNEMQFFY	2	Arabidopsis thaliana, Arabidopsis thaliana
E996	VLSMYELEYFY	1	Homo sapiens
E996	VLTRNELQFFY	1	Arabidopsis thaliana
L992	DANGIITRNEM	2	Arabidopsis thaliana, Arabidopsis thaliana
L992	DGDGVLSMYEL	1	Homo sapiens
L992	DANGVLTRNEL	1	Arabidopsis thaliana
S993	ANGIITRNEMQ	2	Arabidopsis thaliana, Arabidopsis thaliana
S993	GDGVLSMYELE	1	Homo sapiens
S993	ANGVLTRNELQ	1	Arabidopsis thaliana
V991	LDANGIITRNE	2	Arabidopsis thaliana, Arabidopsis thaliana
V991	VDGDGVLSMYE	1	Homo sapiens
V991	LDANGVLTRNE	1	Arabidopsis thaliana
Y917	TDHDFLIDKEN	3	Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Y917	TDHDLYISQAD	1	Homo sapiens