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 ARHGEF7

Gene summary

Basic gene Info.	Gene symbol	ARHGEF7
	Gene name	Rho guanine nucleotide exchange factor (GEF) 7
	Synonyms	BETA-PIX\|COOL-1\|COOL1\|Nbla10314\|P50\|P50BP\|P85\|P85COOL1\|P85SPR\|PAK3\|PIXB
	Cytomap	UCSC genome browser: 13q34
	Type of gene	protein-coding
	RefGenes	NM_001113511.1, NM_001113512.1,NM_001113513.1,NM_003899.3,NM_145735.2,
	Description	PAK-interacting exchange factor betaSH3 domain-containing proline-rich proteinguanine nucleotide exchange factor 7rho guanine nucleotide exchange factor 7
	Modification date	20141222
dbXrefs	MIM : 605477
	HGNC : HGNC
	Ensembl : ENSG00000102606
	HPRD : 05688
	Vega : OTTHUMG00000017357
Protein	UniProt: Q14155 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ARHGEF7
	BioGPS: 8874
Pathway	NCI Pathway Interaction Database: ARHGEF7
	KEGG: ARHGEF7
	REACTOME: ARHGEF7
	Pathway Commons: ARHGEF7
Context	iHOP: ARHGEF7
	ligand binding site mutation search in PubMed: ARHGEF7
	UCL Cancer Institute: ARHGEF7
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:0010763	positive regulation of fibroblast migration	21423176
GO:0043547	positive regulation of GTPase activity	21048939
GO:0048041	focal adhesion assembly	21423176

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Ligand binding site mutations for ARHGEF7

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
G220	I218T	LUSC	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 ARHGEF7

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

(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 ARHGEF7 from PDB

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Differential gene expression and gene-gene network for ARHGEF7

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 ARHGEF7 and the right PPI network was created from samples without mutations in the LBS of ARHGEF7. 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 ARHGEF7

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 ARHGEF7

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.