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 GPSM2

Gene summary

Basic gene Info.	Gene symbol	GPSM2
	Gene name	G-protein signaling modulator 2
	Synonyms	CMCS\|DFNB82\|LGN\|PINS
	Cytomap	UCSC genome browser: 1p13.3
	Type of gene	protein-coding
	RefGenes	NM_013296.4,
	Description	G-protein signalling modulator 2 (AGS3-like, C. elegans)G-protein-signaling modulator 2mosaic protein LGN
	Modification date	20141207
dbXrefs	MIM : 609245
	HGNC : HGNC
	Ensembl : ENSG00000121957
	HPRD : 06609
Protein	UniProt: P81274 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_GPSM2
	BioGPS: 29899
Pathway	NCI Pathway Interaction Database: GPSM2
	KEGG: GPSM2
	REACTOME: GPSM2
	Pathway Commons: GPSM2
Context	iHOP: GPSM2
	ligand binding site mutation search in PubMed: GPSM2
	UCL Cancer Institute: GPSM2
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

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Ligand binding site mutations for GPSM2

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
A28	A28S	BLCA	1
R323	A324T	BRCA	1
F73	F73L	COAD	1
N147	L148I	COAD	1
N247	L248F	LUAD	1
D57	E56K	LUSC	1
Q283	E281D	STAD	1
E32	R33C	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 GPSM2

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
N147	L148I	-1.0160066
N247	L248F	-0.95066489
A28	A28S	-0.91520997
E32	R33C	-0.89085135
R323	A324T	-0.44726427
D57	E56K	-0.23611784
F73	F73L	-0.23059602
Q283	E281D	-0.10799956

(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 GPSM2 from PDB

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Differential gene expression and gene-gene network for GPSM2

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 GPSM2 and the right PPI network was created from samples without mutations in the LBS of GPSM2. 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 GPSM2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C1858695	Chudley-Mccullough syndrome	2	Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for GPSM2

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.