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 RXFP1

Gene summary

Basic gene Info.	Gene symbol	RXFP1
	Gene name	relaxin/insulin-like family peptide receptor 1
	Synonyms	LGR7\|RXFPR1
	Cytomap	UCSC genome browser: 4q32.1
	Type of gene	protein-coding
	RefGenes	NM_001253727.1, NM_001253728.1,NM_001253729.1,NM_001253730.1,NM_001253732.1, NM_001253733.1,NM_021634.3,NR_045579.1,NR_045580.1, NR_045581.1,NR_045582.1,NR_045583.1,NR_045584.1,
	Description	leucine-rich repeat-containing G protein-coupled receptor 7relaxin receptor 1
	Modification date	20141207
dbXrefs	MIM : 606654
	HGNC : HGNC
	Ensembl : ENSG00000171509
	HPRD : 05975
	Vega : OTTHUMG00000149973
Protein	UniProt: Q9HBX9 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_RXFP1
	BioGPS: 59350
Pathway	NCI Pathway Interaction Database: RXFP1
	KEGG: RXFP1
	REACTOME: RXFP1
	Pathway Commons: RXFP1
Context	iHOP: RXFP1
	ligand binding site mutation search in PubMed: RXFP1
	UCL Cancer Institute: RXFP1
Assigned class in mutLBSgeneDB	B: This gene belongs to targetable_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 RXFP1

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
L45	Q43K	LUSC	1
E59	D60N	SKCM	1
D58	D58N	SKCM	1
L45	H46Y	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 RXFP1

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
E59	D60N	-1.3565336
L45	H46Y	-0.79955587
D58	D58N	-0.57315417
L45	Q43K	-0.44682869

(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 RXFP1 from PDB

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Differential gene expression and gene-gene network for RXFP1

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 RXFP1 and the right PPI network was created from samples without mutations in the LBS of RXFP1. 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 RXFP1

Gene level disease information (DisGeNet)