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 CHN2

Gene summary

Basic gene Info.	Gene symbol	CHN2
	Gene name	chimerin 2
	Synonyms	ARHGAP3\|BCH\|CHN2-3\|RHOGAP3
	Cytomap	UCSC genome browser: 7p15.3
	Type of gene	protein-coding
	RefGenes	NM_001039936.2, NM_001293069.1,NM_001293070.1,NM_001293071.1,NM_001293072.1, NM_001293073.1,NM_001293075.1,NM_001293076.1,NM_001293077.1, NM_001293078.1,NM_001293079.1,NM_001293080.1,NM_001293081.1, NM_004067.3,NR_120524.1,NR_120525.1,
	Description	beta-chimaerinbeta-chimerinbeta3-chimaerinchimerin (chimaerin) 2chimerin, beta-2chimerin, testis-specificrho-GTPase-activating protein 3
	Modification date	20141207
dbXrefs	MIM : 602857
	HGNC : HGNC
	Ensembl : ENSG00000106069
	HPRD : 04173
	Vega : OTTHUMG00000023063
Protein	UniProt: P52757 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CHN2
	BioGPS: 1124
Pathway	NCI Pathway Interaction Database: CHN2
	KEGG: CHN2
	REACTOME: CHN2
	Pathway Commons: CHN2
Context	iHOP: CHN2
	ligand binding site mutation search in PubMed: CHN2
	UCL Cancer Institute: CHN2
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 CHN2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
C228	H226Q	BRCA	1
H215	H215R	LUAD	1
C228	H226Q	LUAD	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 CHN2

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
H215	H215R	-0.56940809
C228	H226Q	-0.53058086

(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 CHN2 from PDB

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Differential gene expression and gene-gene network for CHN2

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 CHN2 and the right PPI network was created from samples without mutations in the LBS of CHN2. 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 CHN2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0023903	Liver Neoplasms	1	Biomarker
umls:C0032927	Precancerous Conditions	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for CHN2

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.